Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias.
In this report we describe the occurrence of severe mesomelic shortening of the forearms due to hypoplasia of the ulnae with severe radial bowing. In contrast to the mesomelic dysplasias, i.e. Langer type of mesomelic dwarfism, this apparently autosomal dominantly inherited skeletal anomaly occurred as an isolated anomaly without concomitant involvement of shanks or other parts of the skeleton, and did not influence final adult height.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Hofkens
G
G
Fabry
G
G
van den Berghe
H
H
D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging