| Literature DB >> 1003450 |
V Ventruto, R Di Girlamo, B Festa, A Romano, G Sebastio, L Sebastio.
Abstract
A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.Entities:
Mesh:
Year: 1976 PMID: 1003450 PMCID: PMC1013446 DOI: 10.1136/jmg.13.5.394
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318