acrocephalosyndactyly type III (Saethre-Chotzen syndrome)
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Pathology
- craniosynostosis syndrome
Genetics
- associated with defects in TWIST1
Clinical manifestations
- coronal synostosis
- brachycephaly
- low frontal hairline
- facial asymmetry
- hypertelorism
- broad halluces
- clinodactyly
More general terms
References
- ↑ Howard TD et al. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet 15:36-41, 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8988166
- ↑ el Ghouzzi et al Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nature Genet 15:342-46, 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8988167
- ↑ OMIM https://mirror.omim.org/entry/101400