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Craniosynostosis

Maria I Argyropoulou MD

Department of RadiologyMedical School, University of Ioannina,

Ioannina Greece

Dense fibrous tissue Appear 16–18th GW Bridge gaps between cranial bones 1est year cells within the suture

proliferate without differentiating

patency to ensure growth

Sutures

Premature fusion of one or more cranial sutures

Nl skull: bone growth perpendicular suturesCraniostenosis: prohibited bone growth perpendicular sutures

compensatory overgrowth of bones next to open sutures

•Cosmetic deformity•Raised intracranial pressure•Restricted growth of brain•Visual problems

Premature fusion of metopic* sutureTrigonocephaly

* Nl fusion 3-9 mo

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Definition

Clinical

Role of Imaging

x-rays Confirm CT detailed evaluation MRI associated anomalies

Diagnosis

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Clinical

Role of Imaging

x-rays Confirm CT detailed evaluation MRI associated anomalies

Diagnosis

Clinical

Role of Imaging

x-rays Confirm CT detailed evaluation MRI associated anomalies

Diagnosis

Associated anomaliessagittal

coronal

lambdoid

metopic

Nl values width

Sagittal 0.89±0.35

Coronal 0.93±0.28

Lamdoid 0.96±0.39Chri 700966

“end to end” appearance

“end to end” appearance

“beveled” appearance

“beveled” appearance

Sutures Sonography

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Primary craniostenosisIsolated Syndromic

Secondary craniosynostosis

metabolic, systemic disorders, microcephaly (deficient brain growth)

positional plagiocephaly

Mutations fibroblast growth factor receptors (FGFR1, FGFR2, FGFR3)

abnormal proliferation, differentiation, apoptosis osteoblasts premature closure of sutures

Types

maternal age (>35 years) multiparity male gender BW> 4000 g

Prevalence3.1-4.8 per 10000 live births

Isolated 80-90%Syndromic 10-20%

Apert 40-50%

Risk factors

Linard M et al Caen JFR2008

S Gilbert, Developmental Biology chapter3

Syndromic Gene mutations Fibroblast Growth Factor Receptors FGFR1, FGFR2, FGFR3

Fibroblast Growth Factor controls

Limb & craniofacial development

Pfeiffer FGFR1 and multiple areas of FGFR2

Pfeiffer, Apert, Jackson-Weiss + limb anomaliesCrouzon - limb anomalies

Spectrum of Craniostenosis severity of limb anomaliescontrolled by other genes

SuturesMendosal 6moMetopic 3-9mo Spheno-occipital 12-20yrsSagittal Coronal 30yrsLambdoidTemporo-parietal

Fontanelles

Posterolateral (Asterion) 2yrsAnterior 15-18 moPosterior 3moAnterolateral (Pterion) 2mo

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Sutures Fontanelles 1 month

Metopic sutureAnterolateral fontalellePosterolateral fontanelle

Metopic sutureCoronal suturePosterior fontanelle

Anterior fontanelleCoronal sutureSagittal suture

Squamous occipitalMendosal suture

Squamous occipitalBasi-occipital

Lambdoid sutureBasi-occipital

Lambdoid sutureSpheno-occipital suture

Sutures Fontanelles

Types Scaphocephaly

•Premature fusion Sagittal suture

•Anteroposterior elongation•Decreased bipariatel diameter

Σκάφος

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Scaphocephaly

Gke 563520

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Scaphocephaly

Before post-op

Before post-op

Courtesy Dr S James

Chirurgie Craniofaciale Hôpital Necker Enfants Malades, Paris

30–50% NSC neurocognitive deficits

50% scaphocephalyattention and planning, processing speed, visual spatial skills, language, reading, and spelling

Rs-fMRI abnormalities

Executive control networkDefault mode network

Nonsyndromatic Craniostenosis

J Neurosurg Pediatrics 13:690–698, 2014

Types Trigonocephaly

•Premature fusion metopic suture

• Triangular deformation frontal

Τρίγωνο

Trigonocephaly

Before post-opCourtesy Dr S James

Chirurgie Craniofaciale Hôpital Necker Enfants Malades, Paris

Before post-op

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male 11 w

sad 560917

Trigonocephaly Types Plagiocephaly

•Premature unilateral fusion coronal suture

• Ipsilateral elevation orbit small sphenoid wing

male 15 months

Tsa 525015

Anterior Plagiocephaly Anterior Plagiocephaly

Before post-opCourtesy Dr S James

Chirurgie Craniofaciale Hôpital Necker Enfants Malades, Paris

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APERT acrocephalosyndactily

autosomal dominant disorder BUT majority sporadic

craniosynostosis coronal suture brachycephalywide metopic & sagittal sutures glabella to posterior fontanelle(delayed fusion by formation of bony island)

Midline sutures follow an end to end fusionOff midline close by overlapping

hypertelorism,

retruded midface with a downturned mouth

symmetric syndactyly of the hands and feet.

APERT

Kreinborg et al J Craniofacial Surg 1993 21;181

1 month

8 months

Wide midline defectSagittal sutMetopic sut

Wide anterolateral fontanelle

APERT acrocephalosyndactily

Short anterior cranial fossa

Proptosis with eyes partially open

Short orbital roof(premature fusion spheno-frontal & sphenoparietal sutures)

PROTRUSION lat orbital wall

Short orbital floormidface retrusion (Short maxilla, posteriorly rotated - retruded)

Obtuse angle greater sphenoid wings(pushes orbital contents anteriorly)

Structural changes in extra-ocular muscles Severe symetric syndactily hand & feets

hypertelorism

APERT

Tsa 609763

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APERT

Before post-op

Courtesy Dr S James

Chirurgie Craniofaciale Hôpital Necker Enfants Malades, Paris

APERT

Ketwaroo PD et al. Sem in US, CT and MRI 2015, Pages 453–464

Pierre Maroteux Les maladies osseuses chez l’enfant 3em edition

common cavity external semicircular canal+ vestibule

syndactyly of the hand height of the cranium +digital markings

CROUZON craniofacial dysostosis

Autosomal dominant disorder

First brachial arch affected (responsible for maxillary & mandibullardevelopment)

Fusion of coronal & sagittal suture brachycephaly

hypertelorism, exopthalmos, Downward slanting eyelids

low set ears, Ménière’s disease

Maxilary hypoplasia, prongathism, High, narrow, arched palate

Curved, parrot-like nose

CROUZON craniofacial dysostosis

Bump anterior fontanelle “Clowns’ hat”

Hypertelorism

Exopthalmos

Parrot’s like nose

Pierre Maroteux Les maladies osseuses chez l’enfant 3em edition

low set ears

digital markings

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3 years 11 years

CROUZON

Courtesy Dr S James

Chirurgie Craniofaciale Hôpital Necker Enfants Malades, Paris

Downward slanting eyelidsCROUZON Short anterior cranial fossa

ProptosisVery short orbital floor( short maxilla posteriorly rotated, retrusion of inf & lat orbital wall)

Obtuse angle greater sphenoid wings(pushes orbital contents anteriorly)

Forte AJ et al. PRSjournal 2014:134 p 285-293

CROUZON Short anterior cranial fossa

ProptosisVery short orbital floor( short maxilla posteriorly rotated, retrusion of inf & lat orbital wall)

Obtuse angle greater sphenoid wings(pushes orbital contents anteriorly)

Lowe LH et al. Radiographics 2000:20p 907-922Chiari I

Stenosis jugular foramen

Take home message

The first diagnostic approach is clinical

Detailed evaluation of the cranial anomalies with CT

MRI to detect associated brain anomalies

Tailored body imaging to detect extra-cranial anomalies

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