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Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues.
Am J Med Genet. 1989 Apr; 32(4):500-3.AJ

Abstract

An unique autosomal recessive ectodermal dysplasia is present in 5 sibs from the Indian Ocean island of Rodrigues. The main manifestations are total congenital alopecia, bilateral congenital cataracts, and skin changes of the hands and feet including sclerodactyly, hyperkeratosis, contractures, and pseudoainhum formation. The phenotype differs from that of other genetic ectodermal dysplasias and independent syndromic status is probable.

Authors+Show Affiliations

Wallis C
Department of Human Genetics, University of Cape Town, Medical School, South Africa.
Ip FS
No affiliation info available
Beighton P
No affiliation info available

MeSH

Abnormalities, MultipleAdultAlopeciaCataractChildEctodermal DysplasiaFemaleFoot Deformities, CongenitalGenes, RecessiveHand Deformities, CongenitalHumansPedigreeScleroderma, Localized

Pub Type(s)

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

Language

eng

PubMed ID

2773993

Citation

Wallis, C, et al. "Cataracts, Alopecia, and Sclerodactyly: a Previously Apparently Undescribed Ectodermal Dysplasia Syndrome On the Island of Rodrigues." American Journal of Medical Genetics, vol. 32, no. 4, 1989, pp. 500-3.
Wallis C, Ip FS, Beighton P. Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues. Am J Med Genet. 1989;32(4):500-3.
Wallis, C., Ip, F. S., & Beighton, P. (1989). Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues. American Journal of Medical Genetics, 32(4), 500-3.
Wallis C, Ip FS, Beighton P. Cataracts, Alopecia, and Sclerodactyly: a Previously Apparently Undescribed Ectodermal Dysplasia Syndrome On the Island of Rodrigues. Am J Med Genet. 1989;32(4):500-3. PubMed PMID: 2773993.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues. AU - Wallis,C, AU - Ip,F S, AU - Beighton,P, PY - 1989/4/1/pubmed PY - 1989/4/1/medline PY - 1989/4/1/entrez SP - 500 EP - 3 JF - American journal of medical genetics JO - Am J Med Genet VL - 32 IS - 4 N2 - An unique autosomal recessive ectodermal dysplasia is present in 5 sibs from the Indian Ocean island of Rodrigues. The main manifestations are total congenital alopecia, bilateral congenital cataracts, and skin changes of the hands and feet including sclerodactyly, hyperkeratosis, contractures, and pseudoainhum formation. The phenotype differs from that of other genetic ectodermal dysplasias and independent syndromic status is probable. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/2773993/Cataracts_alopecia_and_sclerodactyly:_a_previously_apparently_undescribed_ectodermal_dysplasia_syndrome_on_the_island_of_Rodrigues_ DB - PRIME DP - Unbound Medicine ER -