A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.

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,...

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Bibliografische gegevens

Gepubliceerd in:	J Med Genet
Hoofdauteurs:	Freire-Maia, N, Fortes, V A, Pereira, L C, Opitz, J M, Marcalle, F A, Cavalli, I J
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	BMJ Publishing Group 1975
Onderwerpen:	Research Article
Online toegang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013297/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1177286/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.12.3.308
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