[Brachydactyly type A4 (brachymesophalangia II and V, Temtamy type). A rare type of brachydactyly].
Brachydactyly is classified into 5 main types. In type A brachydactylies the shortening is mainly confined to the middle phalanges of the digits and toes. Brachydactyly type A4 is characterised by brachymesophalangy II and V. We found this rare type of brachydactyly in a child and his mother. We examined the hands and feet of these individuals radiologically. The reported malformation had affected members of 2 respectively 3 generations. There is no doubt about the autosomal dominant mode of inheritance.
Abteilung Humangenetik, Universitäts-Kinderklinik.
H
H
Reichenbach
D
D
Hörmann
H
H
Theile
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006215:Hallux Valgus / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011859:Radiography; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging
Brachydaktylie Typ A4 (Brachymesophalangie II und V, Temtamy-Typ). Ein seltener Typ von Brachydaktylie.