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An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations.
Am J Med Genet. 1981; 10(3):213-8.AJ

Abstract

We describe a 20-year-old woman with generalized trichodysplasia, dry skin with scaling, hyperchromic spots on limbs, hyperkeratosis (particularly intense on soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The condition is probably due to an autosomal recessive gene. The patient is the only affected member in a sibship of four whose parents are second cousins.

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Authors

Alves AF
No affiliation info available
dos Santos PA
No affiliation info available
Castelo-Branco-Neto E
No affiliation info available
Freire-Maia N
No affiliation info available

MeSH

Abnormalities, MultipleAdultCataractChromosome AberrationsChromosome DisordersEctodermal DysplasiaFemaleHumansHypotrichosisKeratosisKyphosisNails, MalformedScoliosisSyndrome

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7304669

Citation

Alves, A F., et al. "An Autosomal Recessive Ectodermal Dysplasia Syndrome of Hypotrichosis, Onychodysplasia, Hyperkeratosis, Kyphoscoliosis, Catartact, and Other Manifestations." American Journal of Medical Genetics, vol. 10, no. 3, 1981, pp. 213-8.
Alves AF, dos Santos PA, Castelo-Branco-Neto E, et al. An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations. Am J Med Genet. 1981;10(3):213-8.
Alves, A. F., dos Santos, P. A., Castelo-Branco-Neto, E., & Freire-Maia, N. (1981). An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations. American Journal of Medical Genetics, 10(3), 213-8.
Alves AF, et al. An Autosomal Recessive Ectodermal Dysplasia Syndrome of Hypotrichosis, Onychodysplasia, Hyperkeratosis, Kyphoscoliosis, Catartact, and Other Manifestations. Am J Med Genet. 1981;10(3):213-8. PubMed PMID: 7304669.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations. AU - Alves,A F, AU - dos Santos,P A, AU - Castelo-Branco-Neto,E, AU - Freire-Maia,N, PY - 1981/1/1/pubmed PY - 1981/1/1/medline PY - 1981/1/1/entrez SP - 213 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 10 IS - 3 N2 - We describe a 20-year-old woman with generalized trichodysplasia, dry skin with scaling, hyperchromic spots on limbs, hyperkeratosis (particularly intense on soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The condition is probably due to an autosomal recessive gene. The patient is the only affected member in a sibship of four whose parents are second cousins. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/7304669/An_autosomal_recessive_ectodermal_dysplasia_syndrome_of_hypotrichosis_onychodysplasia_hyperkeratosis_kyphoscoliosis_catartact_and_other_manifestations_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1981&volume=10&issue=3&spage=213 DB - PRIME DP - Unbound Medicine ER -