Familial symphalangism syndrome transmitted through five generations.
We report on proximal symphalangism of the four last fingers, transmitted through five generations of an African family. Intrafamilial variations of the disorder are due to the heterogeneity of associated anomalies. This familial trait resembles multiple synostosis disease, however, it is not restricted to synostoses and appears to be more generalised. To our knowledge this is the first report of a familial trait associating proximal and distal symphalangism. The distribution of elementary anomalies in this family suggests a link in their pathogeny and raises the question of embryological equivalence for some of them. Symphalangism seems to be a symptom of a more generalised disorder, the comprehension of which requires a better coordination of clinical, embryological and genetic data.
Moumoumi
H
H
Laboratory of Medical Histology and Embryology, Tours, France.
Mayelo
V
V
Anthonioz
P
P
D000844:Ankylosis / Q000000981:diagnostic imaging; D004550:Elbow / Q000002:abnormalities; D005260:Female; D006226:Hand Deformities / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D013580:Synostosis / Q000175:diagnosis