| Literature DB >> 1177286 |
N Freire-Maia, V A Fortes, L C Pereira, J M Opitz, F A Marcalle, I J Cavalli.
Abstract
This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.Entities:
Mesh:
Year: 1975 PMID: 1177286 PMCID: PMC1013297 DOI: 10.1136/jmg.12.3.308
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318