Craniofacial Malformations Basic Distinction Used in the BCSC Peds Book

Home , Craniosynostosis, Goldenhar syndrome, Pfeiffer syndrome

1 Craniofacial Malformations Basic distinction used in the BCSC Peds book

? ? 2 Craniofacial Malformations Basic distinction used in the BCSC Peds book

Craniosynostoses Not Craniosynostoses 3 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? 4 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s) 5 Craniofacial Malformations

Cranial sutures of the newborn 6 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

What results from premature suture closing? 7 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

What results from premature suture closing? Premature closure produces abnormal growth patterns of the skull and face. Depending upon which suture(s) closes prematurely, specific and well- recognized patterns of craniofacial malformation result. 8 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what doesIs failure the term of craniosynostosis refer? To the premature closing of cranial suture(s) ^ a thing? The opposite of craniosynostosis--ie, the failure of sutures to completely close-- Whatis that results a thing? from premature suture closing? PrematureIndeed it isclosure produces abnormal growth patterns of the skull and face. Depending upon which suture(s) closes prematurely, specific and well- recognizedWhat clinically patterns significant of craniofacial finding might malformation result? result. The outpouching of CNS contents through the residual opening

What would such an outpouching be called? That depends upon its contents… --If the outpouching contains meninges, it’s called a menigocele --If it contains brain tissue, it’s called an encephalocele --If it contains both meninges and brain tissue, it’s a meningoencephalocele 9 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what doesIs failure the term of craniosynostosis refer? To the premature closing of cranial suture(s) ^ a thing? Yes The opposite of craniosynostosis--ie, the failure of sutures to completely close-- Whatis that results a thing? from premature suture closing? PrematureIndeed it isclosure produces abnormal growth patterns of the skull and face. Depending upon which suture(s) closes prematurely, specific and well- recognizedWhat clinically patterns significant of craniofacial finding might malformation result? result. The outpouching of CNS contents through the residual opening

Craniosynostoses Not Craniosynostoses

What would such an outpouching be called? That depends upon its contents… --If the outpouching contains meninges, it’s called a meningocele --If it contains brain tissue, it’s called an encephalocele --If it contains both meninges and brain tissue, it’s a meningoencephalocele 15 Craniofacial Malformations

Encephalocele 16 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

OK Whatthen smartwould guy,such what an outpouching should be done be called? to differentiate between the two? NeuroimagingThat depends upon its contents… --If the outpouching contains meninges, it’s called a meningocele --If it contains brain tissue, it’s called an encephalocele --If it contains both meninges and brain tissue, it’s a meningoencephalocele 17 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

Nasal encephalocele Dacryocele 21 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

If an -ocele comes to the attention of an ophthalmologist, where is it most likely to be located? To what does the term craniosynostosis refer? At the medialIs failure canthus of To the premature closing of cranial suture(s) ^ a thing? Yes GivenThe this opposite location, of craniosynostosiswhat entity is it likely--ie, theto be failure mistaken of sutures for? to completely close-- AWhat dacryoceleis that results a thing? from premature suture closing? PrematureIndeed it isclosure produces abnormal growth patterns of the skull and face. ToDepending determine uponthe nature which of asuture(s) nasal canthal closes cystic prematurely, mass, what confirmatoryspecific and test well should- be performed? FinerecognizedWhat needle clinically biopsy, patterns significant perhaps? of craniofacial finding might malformation result? result. Um,The no. outpouching Just no. Please of CNS don’t contents stick a needle through (or the anything residual else) opening into what may be the brain. Are there clinical signs that can OK Whatthen smartwould guy,such what an outpouching should be done be called? to^ differentiate between the two? NeuroimagingThat depends upon its contents… --If the outpouching contains meninges, it’s called a meningocele --If it contains brain tissue, it’s called an encephalocele --If it contains both meninges and brain tissue, it’s a meningoencephalocele 28 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

If an -ocele comes to the attention of an ophthalmologist, where is it most likely to be located? To what does the term craniosynostosis refer? At the medialIs failure canthus of To the premature closing of cranial suture(s) ^ a thing? Yes GivenThe this opposite location, of craniosynostosiswhat entity is it likely--ie, theto be failure mistaken of sutures for? to completely close-- AWhat dacryoceleis that results a thing? from premature suture closing? PrematureIndeed it isclosure produces abnormal growth patterns of the skull and face. ToDepending determine uponthe nature which of asuture(s) nasal canthal closes cystic prematurely, mass, what confirmatoryspecific and test well should- be performed? FinerecognizedWhat needle clinically biopsy, patterns significant perhaps? of craniofacial finding might malformation result? result. Um,The no. outpouching Just no. Please of CNS don’t contents stick a needle through (or the anything residual else) opening into what may be the brain. Are there clinical signs that can OK then smart guy, what should be done to differentiate between the two? What would such an outpouching be called?^ Yes NeuroimagingThat depends upon its contents… --If the outpouching contains meninges,Dacryocele it’s called a meningoceleMening/enceph-ocele --If it contains brain tissue, it’s called an encephalocele Relation to medial --If it contains both meninges and brain tissue,? it’s a meningoencephalocele? canthal tendon Pulsatile? No Yes 29 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

If an -ocele comes to the attention of an ophthalmologist, where is it most likely to be located? To what does the term craniosynostosis refer? At the medialIs failure canthus of To the premature closing of cranial suture(s) ^ a thing? Yes GivenThe this opposite location, of craniosynostosiswhat entity is it likely--ie, theto be failure mistaken of sutures for? to completely close-- AWhat dacryoceleis that results a thing? from premature suture closing? PrematureIndeed it isclosure produces abnormal growth patterns of the skull and face. ToDepending determine uponthe nature which of asuture(s) nasal canthal closes cystic prematurely, mass, what confirmatoryspecific and test well should- be performed? FinerecognizedWhat needle clinically biopsy, patterns significant perhaps? of craniofacial finding might malformation result? result. Um,The no. outpouching Just no. Please of CNS don’t contents stick a needle through (or the anything residual else) opening into what may be the brain. Are there clinical signs that can OK then smart guy, what should be done to differentiate between the two? What would such an outpouching be called?^ Yes NeuroimagingThat depends upon its contents… --If the outpouching contains meninges,Dacryocele it’s called a meningoceleMening/enceph-ocele --If it contains brain tissue, it’s called an encephalocele Relation to medial --If it contains both meninges and brainBelow tissue, it it’s a meningoencephaloceleAbove it canthal tendon Pulsatile? No Yes 30 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

If an -ocele comes to the attention of an ophthalmologist, where is it most likely to be located? To what does the term craniosynostosis refer? At the medialIs failure canthus of To the premature closing of cranial suture(s) ^ a thing? Yes GivenThe this opposite location, of craniosynostosiswhat entity is it likely--ie, theto be failure mistaken of sutures for? to completely close-- AWhat dacryoceleis that results a thing? from premature suture closing? PrematureIndeed it isclosure produces abnormal growth patterns of the skull and face. ToDepending determine uponthe nature which of asuture(s) nasal canthal closes cystic prematurely, mass, what confirmatoryspecific and test well should- be performed? FinerecognizedWhat needle clinically biopsy, patterns significant perhaps? of craniofacial finding might malformation result? result. Um,The no. outpouching Just no. Please of CNS don’t contents stick a needle through (or the anything residual else) opening into what may be the brain. Are there clinical signs that can OK then smart guy, what should be done to differentiate between the two? What would such an outpouching be called?^ Yes NeuroimagingThat depends upon its contents… --If the outpouching contains meninges,Dacryocele it’s called a meningoceleMening/enceph-ocele --If it contains brain tissue, it’s called an encephalocele Relation to medial --If it contains both meninges and brainBelow tissue, it it’s a meningoencephaloceleAbove it canthal tendon Pulsatile? ? ? 31 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

If an -ocele comes to the attention of an ophthalmologist, where is it most likely to be located? To what does the term craniosynostosis refer? At the medialIs failure canthus of To the premature closing of cranial suture(s) ^ a thing? Yes GivenThe this opposite location, of craniosynostosiswhat entity is it likely--ie, theto be failure mistaken of sutures for? to completely close-- AWhat dacryoceleis that results a thing? from premature suture closing? PrematureIndeed it isclosure produces abnormal growth patterns of the skull and face. ToDepending determine uponthe nature which of asuture(s) nasal canthal closes cystic prematurely, mass, what confirmatoryspecific and test well should- be performed? FinerecognizedWhat needle clinically biopsy, patterns significant perhaps? of craniofacial finding might malformation result? result. Um,The no. outpouching Just no. Please of CNS don’t contents stick a needle through (or the anything residual else) opening into what may be the brain. Are there clinical signs that can OK then smart guy, what should be done to differentiate between the two? What would such an outpouching be called?^ Yes NeuroimagingThat depends upon its contents… --If the outpouching contains meninges,Dacryocele it’s called a meningoceleMening/enceph-ocele --If it contains brain tissue, it’s called an encephalocele Relation to medial --If it contains both meninges and brainBelow tissue, it it’s a meningoencephaloceleAbove it canthal tendon Pulsatile? No Yes 32 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

If an -ocele comes to the attention of an ophthalmologist, where is it most likely to be located? To what does the term craniosynostosis refer? At the medialIs failure canthus of To the premature closing of cranial suture(s) ^ a thing? Yes GivenThe this opposite location, of craniosynostosiswhat entity is it likely--ie, theto be failure mistaken of sutures for? to completely close-- AWhat dacryoceleis that results a thing? from premature suture closing? PrematureIndeed it isclosure produces abnormal growth patterns of the skull and face. ToDepending determine uponthe nature which of asuture(s) nasal canthal closes cystic prematurely, mass, what confirmatoryspecific and test well should- be performed? FinerecognizedWhat needle clinically biopsy, patterns significant perhaps? of craniofacial finding might malformation result? result. Um,The no. outpouching Just no. Please of CNS don’t contents stick a needle through (or the anything residual else) opening into what may be the brain. Are there clinical signs that can OK then smart guy, what should be done to differentiate between the two? What would such an outpouching be called?^ Yes NeuroimagingThat depends upon its contents… --If the outpouching contains meninges,Dacryocele it’s called a meningoceleMening/enceph-ocele --If it contains brain tissue, it’s called an encephalocele Relation to medial What causes a mening/enceph-ocele to pulsate? --If it contains both meninges and brainBelow tissue, it it’s a meningoencephaloceleAbove it canthal tendon Direct transmission of the intracranial pulse pressure Pulsatile? No Yes 33 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

If an -ocele comes to the attention of an ophthalmologist, where is it most likely to be located? To what does the term craniosynostosis refer? At the medialIs failure canthus of To the premature closing of cranial suture(s) ^ a thing? Yes GivenThe this opposite location, of craniosynostosiswhat entity is it likely--ie, theto be failure mistaken of sutures for? to completely close-- AWhat dacryoceleis that results a thing? from premature suture closing? PrematureIndeed it isclosure produces abnormal growth patterns of the skull and face. ToDepending determine uponthe nature which of asuture(s) nasal canthal closes cystic prematurely, mass, what confirmatoryspecific and test well should- be performed? FinerecognizedWhat needle clinically biopsy, patterns significant perhaps? of craniofacial finding might malformation result? result. Um,The no. outpouching Just no. Please of CNS don’t contents stick a needle through (or the anything residual else) opening into what may be the brain. Are there clinical signs that can OK then smart guy, what should be done to differentiate between the two? What would such an outpouching be called?^ Yes NeuroimagingThat depends upon its contents… --If the outpouching contains meninges,Dacryocele it’s called a meningoceleMening/enceph-ocele --If it contains brain tissue, it’s called an encephalocele Relation to medial What causes a mening/enceph-ocele to pulsate? --If it contains both meninges and brainBelow tissue, it it’s a meningoencephaloceleAbove it canthal tendon Direct transmission of the intracranial pulse pressure Pulsatile? No Yes 34 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? 35 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? It can be an isolated/sporadic finding, but is more often syndromic 36 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? It can be an isolated/sporadic finding, but is more often syndromic

In addition to the skull/face, what other bodypart(s) is/are often involved in the syndromic craniosynostoses? 37 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? It can be an isolated/sporadic finding, but is more often syndromic

In addition to the skull/face, what other bodypart(s) is/are often involved in the syndromic craniosynostoses? The hands and feet 38 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? It can be an isolated/sporadic finding, but is more often syndromic

In addition to the skull/face, Whatwhat two other specific bodypart abnormalities(s) is/are of oftenthe hands/feet involved are in characteristic the syndromic craniosynostoses?of the craniosynostosis syndromes? Syndactyly and brachydactyly The hands and feet 39 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? It can be an isolated/sporadic finding, but is more often syndromic

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? It can be an isolated/sporadic finding, but is more often syndromic

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? It can be an isolated/sporadic finding, but is more often syndromic

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? It can be an isolated/sporadic finding, but is more often syndromic

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? It can be an isolated/sporadic finding, but is more often syndromic

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? It can be an isolated/sporadic finding, but is more often syndromic

In addition to the skull/face, what other bodypart(s) is/are often involved in the syndromic craniosynostoses? The hands and feet

There are four classic craniofacial synostosis syndromes. What are they? 45 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses

To what does the term craniosynostosis refer? To the premature closing of cranial suture(s)

How does craniosynostosis present (ie, isolated/sporadic; syndromic; etc)? It can be an isolated/sporadic finding, but is more often syndromic

In addition to the skull/face, what other bodypart(s) is/are often involved in the syndromic craniosynostoses? The hands and feet

There are four classic craniofacial synostosis syndromes. What are they? Coming in hot… 46 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses ? ? Most ophtho residents can name two of these, if not all three ? ? You a baller if you can name this one 47 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Most ophtho residents can name two of these, if not all three Pfeiffer syndrome

Saethre-Chotzen syndrome You a baller if you can name this one 48 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Pfeiffer syndrome How is this pronounced? Saethre-Chotzen syndrome SAY-three CHOT-zen 49 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Pfeiffer syndrome How is this pronounced? Saethre-Chotzen syndrome SAY-three CHOT-zen 50 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome All four have the same inheritance pattern-- what is it? Pfeiffer syndrome Saethre-Chotzen syndrome 51 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome All four have the same inheritance pattern-- what is it? Pfeiffer syndrome AD Saethre-Chotzen syndrome 52 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome 53 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome 54 Craniofacial Malformations

Crouzon syndrome Apert syndrome Pfeiffer syndrome 55 Craniofacial Malformations

Crouzon syndrome: Proptosis 58 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? 59 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? The orbits are abnormally shallow 60 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? The orbits are abnormally shallow

What serious sequelae can result from the proptosis/shallow orbits? 61 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? The orbits are abnormally shallow

What serious sequelae can result from the proptosis/shallow orbits? Exposure keratopathy 62 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? The orbits are abnormally shallow

What serious sequelae can result from the proptosis/shallow orbits? Exposure keratopathy

Is the proptosis accompanied by lid retraction? 63 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? The orbits are abnormally shallow

What serious sequelae can result from the proptosis/shallow orbits? Exposure keratopathy

Is the proptosis accompanied by lid retraction? No--if anything, ptosis may be present (although inferior scleral show is characteristic of Crouzon) 64 Craniofacial Malformations

Crouzon syndrome: Ptosis + inferior scleral show 65 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? What is hypertelorism? The orbits are abnormally shallow

What serious sequelae can result from the proptosis/shallow orbits? Exposure keratopathy

Is the proptosis accompanied by lid retraction? No--if anything, ptosis may be present (although inferior scleral show is characteristic of Crouzon) 66 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? What is hypertelorism? The orbits are abnormally shallow An abnormally large distance between the medial orbital walls What serious sequelae can result from the proptosis/shallow orbits? Exposure keratopathy

Is the proptosis accompanied by lid retraction? No--if anything, ptosis may be present (although inferior scleral show is characteristic of Crouzon) 67 Craniofacial Malformations

What is the name for an abnormally increased distance between the medial canthi? TelecanthusCraniosynostoses Not Craniosynostoses

HypertelorismCrouzon always leadssyndrome to telecanthus, but is telecanthus always associated with hypertelorism? No, telecanthus can present as a soft-tissue abnormality absent hypertelorism (it is called primary Apert syndrome telecanthus when it occurs in the absence of hypertelorism,Three have and similarsecondary facies telecanthus--whichwhen ones? occuring withPfeiffer it) syndrome Is telecanthusSaethre a common-Chotzen occurrence syndrome in the syndromic craniosynostoses? Yes What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? What is hypertelorism? The orbits are abnormally shallow An abnormally large distance between the medial orbital walls What serious sequelae can result from the proptosis/shallow orbits? Absent imaging, it is impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 70 Craniofacial Malformations In addition to an increased interpupillary distance, hypertelorism will result in an increased distance between what other orbital structures? The medial canthi

What is the name for an abnormally increased distance between the medial canthi? TelecanthusCraniosynostoses Not Craniosynostoses

HypertelorismCrouzon always leadssyndrome to telecanthus, but is telecanthus always associated with hypertelorism? No, telecanthus can present as a soft-tissue abnormality absent hypertelorism (it is called primary Apert syndrome telecanthus when it occurs in the absence of hypertelorism,Three have and similarsecondary facies telecanthus--whichwhen ones? occuring withPfeiffer it) syndrome Is telecanthusSaethre a common-Chotzen occurrence syndrome in the syndromic craniosynostoses? Yes What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? What is hypertelorism? The orbits are abnormally shallow An abnormally large distance between the medial orbital walls What serious sequelae can result from the proptosis/shallow orbits? Absent imaging, it is impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 71 Craniofacial Malformations In addition to an increased interpupillary distance, hypertelorism will result in an increased distance between what other orbital structures? The medial canthi

What is the name for an abnormally increased distance between the medial canthi? TelecanthusCraniosynostoses Not Craniosynostoses

HypertelorismCrouzon always leadssyndrome to telecanthus, but is telecanthus always associated with hypertelorism? No, telecanthus can present as a soft-tissue abnormality absent hypertelorism (it is called primary Apert syndrome telecanthus when it occurs in the absence of hypertelorism,Three have and similarsecondary facies telecanthus--whichwhen ones? occuring withPfeiffer it) syndrome Is telecanthusSaethre a common-Chotzen occurrence syndrome in the syndromic craniosynostoses? Yes What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? What is hypertelorism? The orbits are abnormally shallow An abnormally large distance between the medial orbital walls What serious sequelae can result from the proptosis/shallow orbits? Absent imaging, it is impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 72 Craniofacial Malformations In addition to an increased interpupillary distance, hypertelorism will result in an increased distance between what other orbital structures? The medial canthi

What is the name for an abnormally increased distance between the medial canthi? TelecanthusCraniosynostoses Not Craniosynostoses

HypertelorismCrouzon always leadssyndrome to telecanthus, but is telecanthus always associated with hypertelorism? No, telecanthus can present as a soft-tissue abnormality absent hypertelorism (it is called primary Apert syndrome telecanthus when it occurs in the absence of hypertelorism,Three have and similarsecondary facies telecanthus--whichwhen ones? occuring withPfeiffer it) syndrome Is telecanthusSaethre a common-Chotzen occurrence syndrome in the syndromic craniosynostoses? Yes What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? What is hypertelorism? The orbits are abnormally shallow An abnormally large distance between the medial orbital walls What serious sequelae can result from the proptosis/shallow orbits? Absent imaging, it is impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 73 Craniofacial Malformations In addition to an increased interpupillary distance, hypertelorism will result in an increased distance between what other orbital structures? The medial canthi

What is the name for an abnormally increased distance between the medial canthi? TelecanthusCraniosynostoses Not Craniosynostoses

HypertelorismCrouzon always leadssyndrome to telecanthus, but is telecanthus always associated with hypertelorism? No, telecanthus can present as a soft-tissue abnormality absent hypertelorism (it is called primary Apert syndrome telecanthus when it occurs in the absence of hypertelorism,Three have and similarsecondary facies telecanthus--whichwhen ones? occuring withPfeiffer it) syndrome Is telecanthusSaethre a common-Chotzen occurrence syndrome in the syndromic craniosynostoses? Yes What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? What is hypertelorism? The orbits are abnormally shallow An abnormally large distance between the medial orbital walls What serious sequelae can result from the proptosis/shallow orbits? Absent imaging, it is impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 74 Craniofacial Malformations In addition to an increased interpupillary distance, hypertelorism will result in an increased distance between what other orbital structures? The medial canthi

What is the name for an abnormally increased distance between the medial canthi? TelecanthusCraniosynostoses Not Craniosynostoses

HypertelorismCrouzon always leadssyndrome to telecanthus, but is telecanthus always associated with hypertelorism? No, telecanthus can present as a soft-tissue abnormality absent hypertelorism (it is called primary Apert syndrome telecanthus when it occurs in the absence of hypertelorism,Three have and similarsecondary facies telecanthus--whichwhen ones? occuring withPfeiffer it) syndrome Is telecanthusSaethre a common-Chotzen occurrence syndrome in the syndromic craniosynostoses? Yes What orbital features are common to all three conditions? Proptosis and hypertelorism Why do they have proptosis, ie what is the cause? What is hypertelorism? The orbits are abnormally shallow An abnormally large distance between the medial orbital walls What serious sequelae can result from the proptosis/shallow orbits? Absent imaging, it is impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 75 Craniofacial Malformations In addition to an increased interpupillary distance, hypertelorism will result in an increased distance between what other orbital structures? The medial canthi

What is the name for an abnormally increased distance between the medial canthi? TelecanthusCraniosynostoses Not Craniosynostoses

HypertelorismCrouzon always leadssyndrome to telecanthus, but is telecanthus always associated with hypertelorism? No, telecanthus can present as a soft-tissue abnormality absent hypertelorism (it is called primary Apert syndrome telecanthus when it occurs in the absence of hypertelorism,Three have and similarsecondary facies telecanthus--whichwhen ones? occuring withPfeiffer it) syndrome Is telecanthusSaethre a characteristic-Chotzen feature syndrome of Crouzon, Apert, and Pfeiffer syndromes? Yes What orbital features are common to all three conditions? Proptosis and hypertelorism and telecanthus? Why do they have proptosis, ie what is the cause? What is hypertelorism? The orbits are abnormally shallow An abnormally large distance between the medial orbital walls What serious sequelae can result from the proptosis/shallow orbits? Absent imaging, it is impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 76 Craniofacial Malformations In addition to an increased interpupillary distance, hypertelorism will result in an increased distance between what other orbital structures? The medial canthi

What is the name for an abnormally increased distance between the medial canthi? TelecanthusCraniosynostoses Not Craniosynostoses

HypertelorismCrouzon always leadssyndrome to telecanthus, but is telecanthus always associated with hypertelorism? No, telecanthus can present as a soft-tissue abnormality absent hypertelorism (it is called primary Apert syndrome telecanthus when it occurs in the absence of hypertelorism,Three have and similarsecondary facies telecanthus--whichwhen ones? occuring withPfeiffer it) syndrome Is telecanthusSaethre a characteristic-Chotzen feature syndrome of Crouzon, Apert, and Pfeiffer syndromes? Yes What orbital features are common to all three conditions? Proptosis and hypertelorism and telecanthus Why do they have proptosis, ie what is the cause? What is hypertelorism? The orbits are abnormally shallow An abnormally large distance between the medial orbital walls What serious sequelae can result from the proptosis/shallow orbits? Absent imaging, it is impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 77 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism and telecanthus and… Why do they have proptosis, ie what is the cause? What is hypertelorism? The orbits are abnormally shallow An abnormally large distance between the The orbits in Crouzon, Apert, and Pfeiffermedial syndromes orbital walls have other What serious sequelaeimportant can result abnormalities. from the What are these? proptosis/shallow orbits?They are extorted , and diverge excessivelyAbsent imaging, from one it is anotherimpossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 78 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? intorted vs Proptosis and hypertelorism and telecanthus and…extorted,extorted divergent vs Why do they have proptosis, ie what is the cause? What is hypertelorism? excessively divergentconvergent The orbits are abnormally shallow An abnormally large distance between the The orbits in Crouzon, Apert, and Pfeiffermedial syndromes orbital walls have other What serious sequelaeimportant can result abnormalities. from the What are these? proptosis/shallow orbits? intorted vs diverge vs Absent imaging, it is impossible to directly They are extortedextorted , and divergeconverge excessively from one another Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 79 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism and telecanthus and…extorted, Why do they have proptosis, ie what is the cause? What is hypertelorism? excessively divergent The orbits are abnormally shallow An abnormally large distance between the The orbits in Crouzon, Apert, and Pfeiffermedial syndromes orbital walls have other What serious sequelaeimportant can result abnormalities. from the What are these? proptosis/shallow orbits?They are extorted , and diverge excessivelyAbsent imaging, from one it is anotherimpossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 80 Craniofacial Malformations

OK, the orbits are extorted. Does this lead to clinical sequelae of consequence? Indeed it does. Consider: Because the orbitals are extorted, the positions of the rectus muscles are extorted as well. As an example, take the medial recti. Because of the orbital extorsion, these are located superonasally rather than medially. Thus, when the MR Craniosynostosescontract, the eyes will elevate in addition to adducting.Not Craniosynostoses

What is the normal angle formedWhat byorbital these features walls? are common to all three conditions? Ninety degrees Proptosis and hypertelorism and telecanthus and…extorted, Why do they have proptosis, ie what is the cause? What is hypertelorism? excessively divergent TheWhat orbits is itare in theabnormally Crouzon shallow-facies craniosynostoses? An abnormally large distance between the It varies, but is often well above 90 The orbits in Crouzon, Apert, and Pfeiffermedial syndromes orbital walls have other What serious sequelaeimportant can result abnormalities. from the What are these? Absent imaging, it is impossible to directly proptosis/shallow orbits?They are extorted, and diverge excessively from one another Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 85 Craniofacial Malformations

Normal orbital divergence 89 Craniofacial Malformations

Normal orbital divergence Excessive orbital divergence in Crouzon 92 Craniofacial Malformations

CrouzonElevation duringsyndrome adduction…What relatively common strabismus-related problem does that sound like? Apert syndrome It sounds like inferior oblique overactionThree--but have it’s not.similar Rather, facies it is pseudo--which-IO ones? overaction. Pfeiffer syndrome What determines the amount of divergence between the orbits? The angle formedSaethre by the-Chotzen lateral orbital syndrome walls with respect to one another As expected, the myriad orbital problems lead to disordered What is the normal angle formedWhat byorbital these features walls? are common to all three conditions? movementNinety degrees of the globes. InProptosis this regard,and what hypertelorism sort of strabismusand telecanthus pattern and…extorted, isWhy typical do theyof the have synostoses proptosis, iethatwhat present is the cause? with the CrouzonWhat is -hypertelorismtype facies?? excessively divergent Well,TheWhat orbitsthe is excessive itare in theabnormally Crouzon divergence shallow-facies craniosynostoses?produces exotropiaAn , abnormallyand the extortion large distance between the causesIt varies, the butexotropia is often towell be above worse 90 in upgaze . Putting it all together, we The orbits in Crouzon, Apert, and Pfeiffermedial syndromes orbital walls have other canWhat see serious that these sequelae ptsimportant canhave result abnormalities.a Vfrom-pattern the What?exotropia . proptosis/shallow orbits?They are extorted, and diverge excessivelyAbsent imaging, from one it anotheris impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 93 Craniofacial Malformations

CrouzonElevation duringsyndrome adduction…What relatively common strabismus-related problem does that sound like? Apert syndrome It sounds like inferior oblique overactionThree--but have it’s not.similar Rather, facies it is pseudo--which-IO ones? overaction. Pfeiffer syndrome What determines the amount of divergence between the orbits? The angle formedSaethre by the-Chotzen lateral orbital syndrome walls with respect to one another As expected, the myriad orbital problems lead to disordered What is the normal angle formedWhat byorbital these features walls? are common to all three conditions? movementNinety degrees of the globes. InProptosis this regard,and what hypertelorism sort of strabismusand telecanthus pattern and…extorted, isWhy typical do theyof the have synostoses proptosis, iethatwhat present is the cause? with the CrouzonWhat is -hypertelorismtype facies?? excessively divergent Well,TheWhat orbitsthe is excessive itare in theabnormally Crouzon divergence shallow-facies craniosynostoses?produces exotropiaword An , abnormallyand the extortion large distance between the causesIt varies, the but exotropiasame is often word well to beabove worse 90 in upgazedirection of gaze. Putting it all together, The orbits in Crouzon, Apert, and Pfeiffermedial syndromes orbital walls have other weWhat can serious see that sequelae theseimportant canpts resulthave abnormalities. froma V -thepattern What? exotropia . proptosis/shallow orbits?They are extorted, and diverge excessivelyAbsent imaging, from one it anotheris impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 94 Craniofacial Malformations

CrouzonElevation duringsyndrome adduction…What relatively common strabismus-related problem does that sound like? Apert syndrome It sounds like inferior oblique overactionThree--but have it’s not.similar Rather, facies it is pseudo--which-IO ones? overaction. Pfeiffer syndrome What determines the amount of divergence between the orbits? The angle formedSaethre by the-Chotzen lateral orbital syndrome walls with respect to one another As expected, the myriad orbital problems lead to disordered What is the normal angle formedWhat byorbital these features walls? are common to all three conditions? movementNinety degrees of the globes. InProptosis this regard,and what hypertelorism sort of strabismusand telecanthus pattern and…extorted, isWhy typical do theyof the have synostoses proptosis, iethatwhat present is the cause? with the CrouzonWhat is -hypertelorismtype facies?? excessively divergent Well,TheWhat orbitsthe is excessive itare in theabnormally Crouzon divergence shallow-facies craniosynostoses?produces exotropiaAn , abnormallyand the extortion large distance between the causesIt varies, the but exotropia is often well to beabove worse 90 in upgaze . Putting it all together, The orbits in Crouzon, Apert, and Pfeiffermedial syndromes orbital walls have other weWhat can serious see that sequelae theseimportant canpts resulthave abnormalities. froma V -thepattern What? exotropia . proptosis/shallow orbits?They are extorted, and diverge excessivelyAbsent imaging, from one it anotheris impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 95 Craniofacial Malformations

Crouzon syndrome: Exotropia 96 Craniofacial Malformations

CrouzonElevation duringsyndrome adduction…What relatively common strabismus-related problem does that sound like? Apert syndrome It sounds like inferior oblique overactionThree--but have it’s not.similar Rather, facies it is pseudo--which-IO ones? overaction. Pfeiffer syndrome What determines the amount of divergence between the orbits? The angle formedSaethre by the-Chotzen lateral orbital syndrome walls with respect to one another As expected, the myriad orbital problems lead to disordered What is the normal angle formedWhat byorbital these features walls? are common to all three conditions? movementNinety degrees of the globes. InProptosis this regard,and what hypertelorism sort of strabismusand telecanthus pattern and…extorted, isWhy typical do theyof the have synostoses proptosis, iethatwhat present is the cause? with the CrouzonWhat is -hypertelorismtype facies?? excessively divergent Well,TheWhat orbitsthe is excessive itare in theabnormally Crouzon divergence shallow-facies craniosynostoses?produces exotropiaAn , abnormallyand the extortion large distance between the causesIt varies, the but exotropia is often well to beabove worse 90 in upgaze . Putting it all together, The orbits in Crouzon, Apert, and Pfeiffermedial syndromes orbital walls have other weWhat can serious see that sequelae theseimportant canpts resulthave abnormalities. froma V specific-thepattern type What? of exotropia . proptosis/shallow orbits?They are extorted, and diverge excessivelyAbsent imaging, from one it anotheris impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 97 Craniofacial Malformations

CrouzonElevation duringsyndrome adduction…What relatively common strabismus-related problem does that sound like? Apert syndrome It sounds like inferior oblique overactionThree--but have it’s not.similar Rather, facies it is pseudo--which-IO ones? overaction. Pfeiffer syndrome What determines the amount of divergence between the orbits? The angle formedSaethre by the-Chotzen lateral orbital syndrome walls with respect to one another As expected, the myriad orbital problems lead to disordered What is the normal angle formedWhat byorbital these features walls? are common to all three conditions? movementNinety degrees of the globes. InProptosis this regard,and what hypertelorism sort of strabismusand telecanthus pattern and…extorted, isWhy typical do theyof the have synostoses proptosis, iethatwhat present is the cause? with the CrouzonWhat is -hypertelorismtype facies?? excessively divergent Well,TheWhat orbitsthe is excessive itare in theabnormally Crouzon divergence shallow-facies craniosynostoses?produces exotropiaAn , abnormallyand the extortion large distance between the causesIt varies, the but exotropia is often well to beabove worse 90 in upgaze . Putting it all together, The orbits in Crouzon, Apert, and Pfeiffermedial syndromes orbital walls have other weWhat can serious see that sequelae theseimportant canpts resulthave abnormalities. froma V -thepattern What? exotropia . proptosis/shallow orbits?They are extorted, and diverge excessivelyAbsent imaging, from one it anotheris impossible to directly Exposure keratopathy measure the distance between the medial orbital walls. What easily obtainable measurement is Is the proptosis accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 98 Craniofacial Malformations

Crouzon syndrome: V-pattern exotropia 99 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism and telecanthus and…extorted, Why do they have proptosis, ie what is the cause? What is hypertelorism? excessively divergent The orbits are abnormally shallow An abnormally large distance between the medial orbital walls What serious sequelae can result from the Speaking of putting it all together…There is a word--admittedly, ill-defined--that serves proptosis/shallow orbits? Absent imaging, it is impossible to directly Exposureas keratopathyan umbrella term for the orbital abnormalitiesmeasure found the distance in the craniosynostosesbetween the medial orbitalwith Crouzon-type facies. What is it? walls. What easily obtainable measurement is Is the proptosis‘Exorbitism’ accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 100 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Three have similar facies--which ones? Pfeiffer syndrome Saethre-Chotzen syndrome What orbital features are common to all three conditions? Proptosis and hypertelorism and telecanthus and…extorted, Why do they have proptosis, ie what is the cause? What is hypertelorism? excessively divergent The orbits are abnormally shallow An abnormally large distance between the medial orbital walls What serious sequelae can result from the Speaking of putting it all together…There is a word--admittedly, ill-defined--that serves proptosis/shallow orbits? Absent imaging, it is impossible to directly Exposureas keratopathyan umbrella term for the orbital abnormalitiesmeasure found the distance in the craniosynostosesbetween the medial orbitalwith Crouzon-type facies. What is it? walls. What easily obtainable measurement is Is the proptosis‘Exorbitism’ accompanied by lid retraction? used as a proxy? No--if anything, ptosis may be present (although The interpupillary distance, ie, the PD inferior scleral show is characteristic of Crouzon) 101 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Pfeiffer syndrome Saethre-Chotzen syndrome

What facial features characterize Saethre-Chotzen syndrome (SCS)? 102 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome Pfeiffer syndrome Saethre-Chotzen syndrome

What facial features characterize Saethre-Chotzen syndrome (SCS)? Firstly, it’s worth reiterating what features don’t characterize it, ie, it does not present with the exorbitism which is the hallmark of the Crouzon-type craniosynostoses. Rather, SCS facies are more subtle--facial asymmetry, flat forehead, ptosis and ear abnormalities are the rule. 103 Craniofacial Malformations

Saethre-Chotzen syndrome 104 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome

Pfeiffer syndrome These three have common hand/feet findings: Saethre-Chotzen syndrome Syndactylytwo terms and/or mentioned brachydactyly previously 105 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome

Pfeiffer syndrome These three have common hand/feet findings: Saethre-Chotzen syndrome Syndactyly and/or brachydactyly 106 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome

Pfeiffer syndrome These three have common hand/feet findings: Saethre-Chotzen syndrome Syndactyly and/or brachydactyly

Each of the three has a characteristic manner in which the syndactyly/brachydactyly manifests. In that regard, how do they tend to manifest in… Apert syndrome? 107 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome

Pfeiffer syndrome These three have common hand/feet findings: Saethre-Chotzen syndrome Syndactyly and/or brachydactyly

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome

Pfeiffer syndrome These three have common hand/feet findings: Saethre-Chotzen syndrome Syndactyly and/or brachydactyly

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome

Pfeiffer syndrome These three have common hand/feet findings: Saethre-Chotzen syndrome Syndactyly and/or brachydactyly

Apert syndrome 111 Craniofacial Malformations

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome

Pfeiffer syndrome These three have common hand/feet findings: Saethre-Chotzen syndrome Syndactyly and/or brachydactyly

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome

Pfeiffer syndrome These three have common hand/feet findings: Saethre-Chotzen syndrome Syndactyly and/or brachydactyly

Craniosynostoses Not Craniosynostoses Crouzon syndrome Apert syndrome

Pfeiffer syndrome These three have common hand/feet findings: Saethre-Chotzen syndrome Syndactyly and/or brachydactyly

Each of the three has a characteristic manner in which the syndactyly/brachydactyly manifests. In that regard, how do they tend to manifest in… Apert syndrome? Apert is known for severe syndactyly , which typically involves complete fusion of the index through pinky fingers--only the thumb is free. Likewise, most or all of the toes will be fused as well. Fingers all together, the thumb separate--this is the basis for the garment-based name given to this condition. What is that name? Mitten deformity (‘A’ for effort if you said ‘boxing glove deformity’) 114 Craniofacial Malformations