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Autosomal recessive hydrotic ectodermal dysplasia.
J Med Genet. 1977 Apr; 14(2):137-9.JM

Abstract

First cousins, a male and a female, with a new type of hidrotic ectodermal dysplasia are described. They were each the result of first cousin marriage from the Egyptian Karaite community. They both had partial adontia, conical peg-shaped teeth, fine hair that did not grow long, normal sweating, eversion of lips, and pronounced facial similarity. The male had cleft lip on the right side while the female had a branchial cyst on the left side of the neck. The parents of both the cases were completely normal. The patients had distinct clinical similarity to the condition described by Witkop (1965) as 'Autosomal dominant dysplasia of nails and hypodontia' but the nails were less affected and the mode of inheritance was completely different.

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Authors

Fried K
No affiliation info available

MeSH

Child, PreschoolCleft LipConsanguinityEctodermal DysplasiaFemaleGenes, RecessiveHumansMaleNails, MalformedPedigreeSweatingTooth Abnormalities

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

856958

Citation

Fried, K. "Autosomal Recessive Hydrotic Ectodermal Dysplasia." Journal of Medical Genetics, vol. 14, no. 2, 1977, pp. 137-9.
Fried K. Autosomal recessive hydrotic ectodermal dysplasia. J Med Genet. 1977;14(2):137-9.
Fried, K. (1977). Autosomal recessive hydrotic ectodermal dysplasia. Journal of Medical Genetics, 14(2), 137-9.
Fried K. Autosomal Recessive Hydrotic Ectodermal Dysplasia. J Med Genet. 1977;14(2):137-9. PubMed PMID: 856958.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive hydrotic ectodermal dysplasia. A1 - Fried,K, PY - 1977/4/1/pubmed PY - 1977/4/1/medline PY - 1977/4/1/entrez SP - 137 EP - 9 JF - Journal of medical genetics JO - J Med Genet VL - 14 IS - 2 N2 - First cousins, a male and a female, with a new type of hidrotic ectodermal dysplasia are described. They were each the result of first cousin marriage from the Egyptian Karaite community. They both had partial adontia, conical peg-shaped teeth, fine hair that did not grow long, normal sweating, eversion of lips, and pronounced facial similarity. The male had cleft lip on the right side while the female had a branchial cyst on the left side of the neck. The parents of both the cases were completely normal. The patients had distinct clinical similarity to the condition described by Witkop (1965) as 'Autosomal dominant dysplasia of nails and hypodontia' but the nails were less affected and the mode of inheritance was completely different. SN - 0022-2593 UR - https://wwww.unboundmedicine.com/medline/citation/856958/Autosomal_recessive_hydrotic_ectodermal_dysplasia_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=856958 DB - PRIME DP - Unbound Medicine ER -