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A distinct type of hidrotic ectodermal dysplasia.
Am J Med Genet. 1991 Mar 15; 38(4):552-6.AJ

Abstract

Four individuals from 2 generations of a family had a hidrotic type of ectodermal dysplasia (ED). Males and females were similarly affected. They had trichodysplasia, with absent eyebrows and eyelashes; normal teeth, onychodysplasia; normal sweating; mild retrognathia; abnormal dermatoglyphics; and mental retardation. Additional variable manifestations included irregular menses, high implanted or prominent ears, café-au-lait spot, keratosis pilaris, supernumerary nipple, and mild hearing loss. Their previously undescribed condition could be classified as an ED of 1-3 (trichoonychial) subgroup of group A according to Freire-Maia's classification and is inherited as an autosomal recessive trait.

Authors+Show Affiliations

Halal F
Division of Medical Genetics, Montreal Children's Hospital, Quebec, Canada.
Setton N
No affiliation info available
Wang NS
No affiliation info available

MeSH

Chromosome AberrationsDermatoglyphicsEctodermal DysplasiaFemaleGenes, RecessiveHairHumansInfant, NewbornMalePedigree

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2063897

Citation

Halal, F, et al. "A Distinct Type of Hidrotic Ectodermal Dysplasia." American Journal of Medical Genetics, vol. 38, no. 4, 1991, pp. 552-6.
Halal F, Setton N, Wang NS. A distinct type of hidrotic ectodermal dysplasia. Am J Med Genet. 1991;38(4):552-6.
Halal, F., Setton, N., & Wang, N. S. (1991). A distinct type of hidrotic ectodermal dysplasia. American Journal of Medical Genetics, 38(4), 552-6.
Halal F, Setton N, Wang NS. A Distinct Type of Hidrotic Ectodermal Dysplasia. Am J Med Genet. 1991 Mar 15;38(4):552-6. PubMed PMID: 2063897.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A distinct type of hidrotic ectodermal dysplasia. AU - Halal,F, AU - Setton,N, AU - Wang,N S, PY - 1991/3/15/pubmed PY - 1991/3/15/medline PY - 1991/3/15/entrez SP - 552 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 38 IS - 4 N2 - Four individuals from 2 generations of a family had a hidrotic type of ectodermal dysplasia (ED). Males and females were similarly affected. They had trichodysplasia, with absent eyebrows and eyelashes; normal teeth, onychodysplasia; normal sweating; mild retrognathia; abnormal dermatoglyphics; and mental retardation. Additional variable manifestations included irregular menses, high implanted or prominent ears, café-au-lait spot, keratosis pilaris, supernumerary nipple, and mild hearing loss. Their previously undescribed condition could be classified as an ED of 1-3 (trichoonychial) subgroup of group A according to Freire-Maia's classification and is inherited as an autosomal recessive trait. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/2063897/A_distinct_type_of_hidrotic_ectodermal_dysplasia_ DB - PRIME DP - Unbound Medicine ER -