Bilateral radial deficiency with lower limb involvement.
We describe a 10-month-old boy with an unclassified form of radial aplasia with absent thumbs, tibia hypo/-aplasia, and partial absence of toes. Only a few cases with similar limb deficiencies have been published. We try to classify the malformations on the basis of embryological considerations and discuss possible differential diagnosis.
Spranger
S
S
Institute of Human Genetics, University of Heidelberg, Germany.
Weber
M
M
Tröger
J
J
Tariverdian
G
G
Opitz
J M
JM
D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006391:Hemangioma / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011859:Radiography; D011884:Radius / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities*; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities*