Sutures Craniosynostosis Dense fibrous tissue Appear 16–18th GW Bridge gaps between cranial bones Maria I Argyropoulou MD 1est year cells within the suture proliferate without differentiating
patency to ensure growth Department of Radiology Medical School, University of Ioannina, Ioannina Greece
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Definition Diagnosis
Clinical Premature fusion of one or more cranial sutures
Nl skull: bone growth perpendicular sutures Craniostenosis: prohibited bone growth perpendicular sutures Role of Imaging
compensatory overgrowth of bones next to open sutures
Premature fusion of metopic* suture Trigonocephaly •Cosmetic deformity •Raised intracranial pressure X x-rays Confirm •Restricted growth of brain •Visual problems CT detailed evaluation MRI associated anomalies
* Nl fusion 3-9 mo 34
1 Diagnosis Diagnosis
Clinical Clinical
Role of Imaging Role of Imaging
x-rays Confirm CT detailed evaluation x-rays Confirm MRI associated anomalies CT detailed evaluation MRI associated anomalies
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Associated anomalies Sutures Sonography
sagittal
“end to end” appearance metopic
coronal “end to end” appearance
“beveled” appearance lambdoid
Nl values width Sagittal 0.89±0.35
Coronal 0.93±0.28 “beveled” appearance
Lamdoid 0.96±0.39 Chri 700966
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2 Types Risk factors
Primary craniostenosis maternal age (>35 years) Isolated Syndromic multiparity male gender Mutations fibroblast growth factor receptors (FGFR1, FGFR2, FGFR3) BW> 4000 g abnormal proliferation, differentiation, apoptosis osteoblasts premature closure of sutures Prevalence 3.1-4.8 per 10000 live births
Isolated 80-90% Syndromic 10-20% Secondary craniosynostosis Apert 40-50% metabolic, systemic disorders, microcephaly (deficient brain growth) positional plagiocephaly
Linard M et al Caen JFR2008
910
Syndromic Sutures Gene mutations Mendosal 6mo Fibroblast Growth Factor Receptors FGFR1, FGFR2, FGFR3 Metopic 3-9mo Spheno-occipital 12-20yrs Fibroblast Growth Factor controls Sagittal Coronal 30yrs Limb & craniofacial development Lambdoid Temporo-parietal Pfeiffer FGFR1 and multiple areas of FGFR2
Pfeiffer, Apert, Jackson-Weiss + limb anomalies Crouzon - limb anomalies
Spectrum of Craniostenosis severity of limb anomalies Fontanelles controlled by other genes Posterolateral (Asterion) 2yrs Anterior 15-18 mo Posterior 3mo Anterolateral (Pterion) 2mo
S Gilbert, Developmental Biology chapter3
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3 Sutures Fontanelles 1 month Sutures Fontanelles
Squamous occipital Squamous occipital Mendosal suture Basi-occipital
Metopic suture Anterolateral fontalelle Posterolateral fontanelle Metopic suture Coronal suture Posterior fontanelle
Anterior fontanelle Lambdoid suture Lambdoid suture Coronal suture Basi-occipital Spheno-occipital suture Sagittal suture 13 14
Types Scaphocephaly Scaphocephaly
X
Σκάφος
•Premature fusion Sagittal suture
•Anteroposterior elongation •Decreased bipariatel diameter
Gke 563520 15 16
4 Scaphocephaly Nonsyndromatic Craniostenosis
30–50% NSC neurocognitive deficits
50% scaphocephaly attention and planning, processing speed, visual spatial skills, language, reading, and spelling
Before post-op Rs-fMRI abnormalities
Executive control network Default mode network Courtesy Dr S James
Chirurgie Craniofaciale Hôpital Necker Enfants Malades, Paris Before post-op J Neurosurg Pediatrics 13:690–698, 2014 17 18
Types Trigonocephaly Trigonocephaly
Τρίγωνο
•Premature fusion metopic suture
• Triangular deformation frontal
Before post-op
Courtesy Dr S James
Chirurgie Craniofaciale Hôpital Necker Enfants Malades, Paris Before post-op 19 20
5 Trigonocephaly Types Plagiocephaly
•Premature unilateral fusion coronal suture
male 11 w • Ipsilateral elevation orbit small sphenoid wing
sad 560917
21 22
Anterior Plagiocephaly Anterior Plagiocephaly
male 15 months
Courtesy Dr S James Tsa 525015 Before post-op Chirurgie Craniofaciale Hôpital Necker Enfants Malades, Paris 23 24
6 APERT acrocephalosyndactily APERT
autosomal dominant disorder BUT majority sporadic Wide midline defect Sagittal sut craniosynostosis coronal suture brachycephaly Metopic sut wide metopic & sagittal sutures glabella to posterior fontanelle Wide anterolateral (delayed fusion by formation of bony island) fontanelle
Midline sutures follow an end to end fusion Off midline close by overlapping 1 month
hypertelorism, 8 months
retruded midface with a downturned mouth
symmetric syndactyly of the hands and feet.
Kreinborg et al J Craniofacial Surg 1993 21;181 25 26
APERT acrocephalosyndactily APERT
Short anterior cranial fossa
Proptosis with eyes partially open
Short orbital roof (premature fusion spheno-frontal & sphenoparietal sutures)
PROTRUSION lat orbital wall
Short orbital floor midface retrusion (Short maxilla, posteriorly rotated - retruded)
Obtuse angle greater sphenoid wings (pushes orbital contents anteriorly)
Structural changes in extra-ocular muscles hypertelorism Severe symetric syndactily hand & feets Tsa 609763 27 28
7 APERT APERT
common cavity external semicircular canal+ vestibule
syndactyly of the hand height of the cranium + digital markings
Pierre Maroteux Les maladies osseuses chez l’enfant 3em edition
Courtesy Dr S James
Chirurgie Craniofaciale Hôpital Necker Enfants Malades, Paris
Before post-op Ketwaroo PD et al. Sem in US, CT and MRI 2015, Pages 453–464 29 30
CROUZON craniofacial dysostosis CROUZON craniofacial dysostosis digital markings Bump anterior fontanelle “Clowns’ hat” Autosomal dominant disorder
First brachial arch affected (responsible for maxillary & mandibullar development)
Fusion of coronal & sagittal suture brachycephaly Hypertelorism
hypertelorism, exopthalmos, Downward slanting eyelids Exopthalmos
low set ears, Ménière’s disease low set ears
Maxilary hypoplasia, prongathism, High, narrow, arched palate Parrot’s like nose Curved, parrot-like nose
Pierre Maroteux Les maladies osseuses chez l’enfant 3em edition 31 32
8 CROUZON CROUZON Downward slanting eyelids Short anterior cranial fossa
Proptosis Very short orbital floor ( short maxilla posteriorly rotated, retrusion of inf & lat orbital wall)
Obtuse angle greater sphenoid wings (pushes orbital contents anteriorly)
3 years 11 years
Courtesy Dr S James
Chirurgie Craniofaciale Hôpital Necker Enfants Malades, Paris Forte AJ et al. PRSjournal 2014:134 p 285-293 33 34
CROUZON Take home message Short anterior cranial fossa
Proptosis Very short orbital floor ( short maxilla posteriorly rotated, retrusion of inf & lat orbital wall) The first diagnostic approach is clinical
Obtuse angle greater sphenoid wings Detailed evaluation of the cranial anomalies with CT (pushes orbital contents anteriorly) MRI to detect associated brain anomalies
Tailored body imaging to detect extra-cranial anomalies Stenosis jugular foramen
Chiari I Lowe LH et al. Radiographics 2000:20p 907-922
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