BACKGROUNDCraniosynostosis TypesCONSULTHPI IMAGINGImagesPosterior Trigonocephaly (Mercedes sign)SyndromesMuenke SyndromeSaethre-Chotzen syndromeCarpenter SyndromeCloverleaf Skull (Kleeblattschadel deformity)Board Pearls
BACKGROUND
- a manifestation of Virchow's Law: if sutures close early, skull cannot grow perpindicular to suture, instead grows parallel.
- prevalence of non-syndrome type: 1/2100
- sagittal 40-60%
- coronal 20-30%
- metopic: < 20%
- lamboid: extremely rare
Review of sutures
Craniosynostosis Types
Suture Fused | Head Shape | Head shape |
Coronal (uni) | Anterior synsototic plagiocephaly | ㅤ |
Coronal (bi) | Bracycephaly | ㅤ |
Lamboid | posterior synostotic plagiocephaly | trapezoid: also look for: (1) ipsilateral occipital flattening (2) ipsilateral posterior/inferior ear displacement (3) ipsilateral mastoid prominence (4) ipsilateral frontal flattening (5) contralateral frontal bossing |
None | Positional plagiocephaly (not actually craniosynostosis) | parallelogram |
Squamosal suture | none | ㅤ |
CONSULT
PHYSICAL EXAM
Fontanelles
OFCs
Fontanelles
OFCs
A/P
- Monitor OFCs
- Delayed surgery if needed at 6-12 months
Images
Lamboid synostosis
Posterior Trigonocephaly (Mercedes sign)
premature closure of sagittal and proximal bilateral lambdoid sutures
Syndromes
Chiari is a common co-occurring condition in syndromic craniosynostoses
Mutations <--> Syndromes
Gene Mutation | Syndrome(s) |
FGFR1 | |
FGFR2 | |
FGFR3 | Muenke syndrome, Crouzon |
TWIST | Saethre-Chotzen syndrome |
RAB23 | Carpenter syndrome |
ㅤ | Apert | Pfeiffer | Crouzon | Baller-Gerold |
Midface hypoplasia | YES | YES | YES | ㅤ |
Syndactyly | YES | YES | RARE | ㅤ |
Unique sx | ㅤ | - acanthosis nigricans - Hypertelorism (wide set eyes) | - Poikiloderma - radial ray deficiency (club hand) | |
Hydro/DD | Majority | ㅤ | ~1/3 (most likely normal intelligence) | ㅤ |
Digital Fusion anomalies | YES | ㅤ | NO | ㅤ |
Inheritance | AD | ㅤ | AD | ㅤ |
Mutation | FGFR2 | ㅤ | FGFR2/3 | ㅤ |
Type of Cranio-synostosis | classically bicoronal | ㅤ | - classically bicoronal - Mandibular prognathism | ㅤ |
Pfeiffer
Muenke Syndrome
- FGFR3 mutations
Saethre-Chotzen syndrome
- caused by TWIST mutations
Carpenter Syndrome
- RAB23 mutations
Cloverleaf Skull (Kleeblattschadel deformity)
- etiology: pansynostosis → severe restriction of calvarial growth and intracranial hypertension in neonatal period
- Management: rapid decompression
- Even survivors, disability is high
Made with Bullet