| Literature DB >> 7735504 |
R A Pfeiffer1, H Hirschfelder, H D Rott.
Abstract
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.Entities:
Mesh:
Year: 1995 PMID: 7735504
Source DB: PubMed Journal: Clin Dysmorphol ISSN: 0962-8827 Impact factor: 0.816