Search
craniosynostosis 2 (Boston-type)
Pathology:
- premature fusion of calvarial sutures
Genetics:
- autosomal dominant
- associated with defects in MSX2
Clinical manifestations:
- phenotype is either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull
- associated features include
a) severe headache
b) high incidence of visual problems
- myopia or hyperopia
c) short first metatarsals
- intelligence is normal
General
craniosynostosis
Database Correlations
OMIM 604757
References
OMIM :accession 604757