[Ehler-Danlos syndrome (type V) with urethra bifida and polydactyly: an unusual combination].
Ehlers-Danlos syndrome is currently regarded as a connective tissue dysplasia. Its genetic, biochemical, histological and clinical features are described, together with a personal case in a patient who presented the fundamental symptoms, plus polydactyly and bifid urethra. This association had not been hitherto reported in the literature. The case itself is classed as Ehlers-Danlos syndrome type V.
D000015:Abnormalities, Multiple / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000150:complications* / Q000235:genetics; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D008875:Middle Aged; D014521:Urethra / Q000002:abnormalities*
Ehlers-Danlos (tipo V) con uretra bifida e polidattilia: una rara associazione.