Specific acromesomelia with facial and renal anomalies: a new syndrome.
A facio-renal-acromesomelic syndrome is reported in a 15-year-old boy with normal intelligence. The main dysmorphic features are a large head and congenital ptosis with telecanthus. There is unilateral ureteral stenosis with hydronephrosis. Bone abnormalities consist of ulnar dysplasia and tibial hypoplasia, multiple synostoses of carpal and tarsal bones, proximal synostoses of metatarsals, and of brachydactyly. A similar case has not been published.
Pfeiffer
R A
RA
Institut für Humangenetik, Friedrich-Alexander Universität Erlangen, Nürnberg, Germany.
Hirschfelder
H
H
Rott
H D
HD
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D001763:Blepharoptosis / Q000151:congenital; D005121:Extremities / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital; D008297:Male; D011859:Radiography; D013577:Syndrome