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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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