A family with 15 individuals in four successive generations affected by Jackson-Weiss syndrome, craniosynostosis with Crouzon-variant-like phenotype and feet's abnormalities, is presented. An autosomal dominant inheritance pattern with complete penetrance, variable expressivity, and wide intrafamilial variation, more among, less within the same generation, was observed. Concerning the frequency and severity of complications, the evolution of craniofacial deformities seems to parallel those described with Crouzon syndrome, suggesting the similar evaluation and management.
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Stanković, B., Krstić, V., Stankov, B. et al. Jackson-Weiss syndrome registered in four successive generations. Doc Ophthalmol 85, 281–286 (1994). https://doi.org/10.1007/BF01664936
- Foot abnormalities