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Brief clinical report: new, autosomal dominant form of ectodermal dysplasia.
Am J Med Genet. 1983 Feb; 14(2):381-4.AJ

Abstract

We describe a 15-year-old boy with an ectodermal dysplasia syndrome (EDS) associated with unilateral adrenal cyst. The EDS combination of aplasia cutis verticis, hypohidrosis, nipple/breast hypoplasia, onychodysplasia, and delayed dental eruption with minor tooth anomalies has not been previously reported as an autosomal dominant trait. The association with adrenal cyst may alert other units to review their experience to determine if such combination is more than a coincidence.

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Publisher Full Text

Authors

Tuffli GA
No affiliation info available
Laxova R
No affiliation info available

MeSH

AdolescentAdrenal Gland DiseasesAdultCystsEctodermal DysplasiaFemaleGenes, DominantHumansMaleNails, MalformedNipplesTooth Abnormalities

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6837633

Citation

Tuffli, G A., and R Laxova. "Brief Clinical Report: New, Autosomal Dominant Form of Ectodermal Dysplasia." American Journal of Medical Genetics, vol. 14, no. 2, 1983, pp. 381-4.
Tuffli GA, Laxova R. Brief clinical report: new, autosomal dominant form of ectodermal dysplasia. Am J Med Genet. 1983;14(2):381-4.
Tuffli, G. A., & Laxova, R. (1983). Brief clinical report: new, autosomal dominant form of ectodermal dysplasia. American Journal of Medical Genetics, 14(2), 381-4.
Tuffli GA, Laxova R. Brief Clinical Report: New, Autosomal Dominant Form of Ectodermal Dysplasia. Am J Med Genet. 1983;14(2):381-4. PubMed PMID: 6837633.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Brief clinical report: new, autosomal dominant form of ectodermal dysplasia. AU - Tuffli,G A, AU - Laxova,R, PY - 1983/2/1/pubmed PY - 1983/2/1/medline PY - 1983/2/1/entrez SP - 381 EP - 4 JF - American journal of medical genetics JO - Am J Med Genet VL - 14 IS - 2 N2 - We describe a 15-year-old boy with an ectodermal dysplasia syndrome (EDS) associated with unilateral adrenal cyst. The EDS combination of aplasia cutis verticis, hypohidrosis, nipple/breast hypoplasia, onychodysplasia, and delayed dental eruption with minor tooth anomalies has not been previously reported as an autosomal dominant trait. The association with adrenal cyst may alert other units to review their experience to determine if such combination is more than a coincidence. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/6837633/Brief_clinical_report:_new_autosomal_dominant_form_of_ectodermal_dysplasia_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1983&volume=14&issue=2&spage=381 DB - PRIME DP - Unbound Medicine ER -