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Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome?
Am J Med Genet. 1996 Dec 18; 66(3):257-60.AJ

Abstract

We report on 3 sibs (2 boys and a girl) with a previously apparently unrecognized combination of anonychia congenita and microcephaly with normal intelligence. The shape of the head is normal. Other anomalies include clinodactyly of the fifth fingers and bilateral single transverse palmar creases. Skeletal survey was normal in the 2 older children. These children and their first-cousin Iranian parents have widely spaced teeth. The children's first cousin also has total anonychia congenita and apparently small head. We review anonychia congenita, and conclude that the presently reported family with a "new autosomal-recessive disorder" provides further evidence of the heterogeneity of this condition.

Authors+Show Affiliations

F. Clarke Fraser Unit of Clinical Genetics, Montreal Children's Hospital, Quebec, Canada.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8985482

Citation

Teebi, A S., and P Kaurah. "Total Anonychia Congenita and Microcephaly With Normal Intelligence: a New Autosomal-recessive Syndrome?" American Journal of Medical Genetics, vol. 66, no. 3, 1996, pp. 257-60.
Teebi AS, Kaurah P. Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome? Am J Med Genet. 1996;66(3):257-60.
Teebi, A. S., & Kaurah, P. (1996). Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome? American Journal of Medical Genetics, 66(3), 257-60.
Teebi AS, Kaurah P. Total Anonychia Congenita and Microcephaly With Normal Intelligence: a New Autosomal-recessive Syndrome. Am J Med Genet. 1996 Dec 18;66(3):257-60. PubMed PMID: 8985482.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome? AU - Teebi,A S, AU - Kaurah,P, PY - 1996/12/18/pubmed PY - 2000/6/20/medline PY - 1996/12/18/entrez SP - 257 EP - 60 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 66 IS - 3 N2 - We report on 3 sibs (2 boys and a girl) with a previously apparently unrecognized combination of anonychia congenita and microcephaly with normal intelligence. The shape of the head is normal. Other anomalies include clinodactyly of the fifth fingers and bilateral single transverse palmar creases. Skeletal survey was normal in the 2 older children. These children and their first-cousin Iranian parents have widely spaced teeth. The children's first cousin also has total anonychia congenita and apparently small head. We review anonychia congenita, and conclude that the presently reported family with a "new autosomal-recessive disorder" provides further evidence of the heterogeneity of this condition. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8985482/Total_anonychia_congenita_and_microcephaly_with_normal_intelligence:_a_new_autosomal_recessive_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=66&issue=3&spage=257 DB - PRIME DP - Unbound Medicine ER -