[A complex symphalangia syndrome with brachydactyly, humeroradial synostosis and other multiple joint dysplasias].
Two members of a family affected with autosomal dominant multiple synostosis syndrome and malformations of various joints are presented, the most prominent signs being humeroradial synostosis and symphalangism. Moreover, dysplastic hip joints and familial conductive deafness as well as craniofacial abnormalities are observed. The present report may serve as an introduction to the complex radiological pattern in patients with hereditary brachydactyly syndrome.
Schumacher
K A
KA
Abteilung Radiologie I der Universität Ulm.
Wolf
M
M
Friedrich
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D006811:Humerus / Q000002:abnormalities*; D007596:Joints / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D013580:Synostosis / Q000235:genetics*
Komplexes Symphalgiesyndrom mit Brachydaktylien, humeroradialer Synostose sowie weiteren multiplen Gelenkdysplasien.