Craniosynostosis
FACTS
a manifestation of Virchow's Law: if sutures close early, skull cannot grow perpindicular to suture, instead grows parallel.
Review of sutures:
| Early closure of suture | Craniosynostosis Type | Notes |
| Metopic | Trigoncephaly | |
| Sagittal | scaphocephaly | |
| Coronal (unilateral) | anterior synostotic plagiocephaly | |
| Coronal (bilateral) | Brachycephaly | |
| Lambdoid | posterior synostotic plagiocephaly | 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 birds-eye view: trapezoid |
| None | Positional plagiocephaly (not really craniosynostosis) | occipital flattening with anterior displacement of ipsilateral ear/forehead birds-eye view: parallelogram |
| Squamousal Suture | No significant craniosynostosis results | considered a very minor suture |
CONSULT
HPI |
FOCUSED EXAM
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IMG
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A/P- note 1 [ ] box 1 |
Notes
Types of Craniosynostosis
Lambdoid Craniosynostosis
Associated Syndromes
Pfeiffer Syndrome: genetic disorder characterized by the premature fusion of certain skull bones
Common features of Apert and Pfeiffer Syndrome: midface hypoplasia, hypertelorism, syndactyly, hearing loss
Pfeiffer only: broad thumbs, medial deviaiton of thumbs
Apert Syndrome:
- Common features of Apert and Pfeiffer Syndrome: midface hypoplasia, hypertelorism, syndactyly, hearing loss
- due to mutations in FGFR2
Crouzon Syndrome
- acanthosis nigricans
Muenke Syndrome
FGFR3 mutations
Saethre-Chotzen syndrome:
- caused by TWIST mutations
Carpenter Syndrome:
- RAB23 mutations