title: Bilateral radial deficiency with lower limb involvement.
abstract: 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.
authors.affiliation: Institute of Human Genetics, University of Heidelberg, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Spranger
authors.forename: M
authors.initials: M
authors.lastname: Weber
authors.forename: J
authors.initials: J
authors.lastname: Tröger
authors.forename: G
authors.initials: G
authors.lastname: Tariverdian
authors.forename: J M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: 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*