Ectrodactyly-mandibulo-facial dysostosis: case report and delineation of an entity.
We describe a 24-year-old woman with tetramelic ectrodactyly, mandibulo-facial dysostosis and cleft uvula. This rare association has previously been reported in two families, but with ectrodactyly affecting only the feet. We propose the new term ectrodactyly-mandibulo-facial dysostosis for this entity.
Turnpenny
P D
PD
Medical School, Foresterhill, Aberdeen, UK.
Johnston
A W
AW
Dean
J C
JC
Haites
N E
NE
Couzin
D A
DA
Stephen
G S
GS
D000328:Adult; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D011859:Radiography; D014609:Uvula / Q000002:abnormalities