Sutures Craniosynostosis Dense fibrous tissue Appear 16–18th GW  Bridge gaps between cranial 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 : 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 controlled by other genes Posterolateral () 2yrs Anterior 15-18 mo Posterior 3mo Anterolateral () 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 Metopic suture

Anterior fontanelle Lambdoid suture Coronal suture Basi-occipital Spheno-occipital 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

 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 “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 , 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

 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

35 36

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