A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.
- 1 September 1975
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 12 (3) , 308-310
- https://doi.org/10.1136/jmg.12.3.308
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.Keywords
This publication has 2 references indexed in Scilit:
- Neurologic and Psychometric Findings in the Brachmann-De Lange SyndromeNeuropediatrics, 1971
- Ectodermal DysplasiasHuman Heredity, 1971