Jackson-Weiss syndrome registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities.
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.
Stanković
B
B
Department of Ophthalmology, University Clinical Centre, Belgrade, Yugoslavia.
Krstić
V
V
Stankov
B
B
Jojić
L
L
Nagulić
M
M
Artiko
G
G
D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics* / Q000473:pathology; D003398:Craniosynostoses / Q000235:genetics*; D005128:Eye Diseases / Q000473:pathology; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome