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Pilodentoungulardysplasia with microcephaly: a new ectodermal dysplasia/malformation syndrome.
Am J Med Genet. 1987 Jan; 26(1):153-6.AJ

Abstract

We report on a 6-year-old Brazilian girl with hypotrichosis, dental alterations, onychodysplasia, microcephaly, mental retardation, precocious puberty, abnormal palmar creases, and other findings. This appears to be the first report of this multiple congenital anomalies/mental retardation (MCA/MR) syndrome which is probably due to an autosomal recessive gene.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

3812555

Citation

Tajara, E H., et al. "Pilodentoungulardysplasia With Microcephaly: a New Ectodermal Dysplasia/malformation Syndrome." American Journal of Medical Genetics, vol. 26, no. 1, 1987, pp. 153-6.
Tajara EH, Pinheiro M, Freire-Maia N. Pilodentoungulardysplasia with microcephaly: a new ectodermal dysplasia/malformation syndrome. Am J Med Genet. 1987;26(1):153-6.
Tajara, E. H., Pinheiro, M., & Freire-Maia, N. (1987). Pilodentoungulardysplasia with microcephaly: a new ectodermal dysplasia/malformation syndrome. American Journal of Medical Genetics, 26(1), 153-6.
Tajara EH, Pinheiro M, Freire-Maia N. Pilodentoungulardysplasia With Microcephaly: a New Ectodermal Dysplasia/malformation Syndrome. Am J Med Genet. 1987;26(1):153-6. PubMed PMID: 3812555.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pilodentoungulardysplasia with microcephaly: a new ectodermal dysplasia/malformation syndrome. AU - Tajara,E H, AU - Pinheiro,M, AU - Freire-Maia,N, PY - 1987/1/1/pubmed PY - 1987/1/1/medline PY - 1987/1/1/entrez SP - 153 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 26 IS - 1 N2 - We report on a 6-year-old Brazilian girl with hypotrichosis, dental alterations, onychodysplasia, microcephaly, mental retardation, precocious puberty, abnormal palmar creases, and other findings. This appears to be the first report of this multiple congenital anomalies/mental retardation (MCA/MR) syndrome which is probably due to an autosomal recessive gene. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/3812555/Pilodentoungulardysplasia_with_microcephaly:_a_new_ectodermal_dysplasia/malformation_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1987&volume=26&issue=1&spage=153 DB - PRIME DP - Unbound Medicine ER -