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Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation.
Am J Med Genet. 1993 Feb 01; 45(3):353-5.AJ

Abstract

We describe 2 brothers with congenital microcephaly and moderately severe mental retardation. The presence of identical and symmetrical digital anomalies suggests that this constellation represents a clinically recognizable recessively inherited mental retardation syndrome. Recognition of the clinical diagnosis should provide accurate genetic counseling to parents of a single affected child.

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Authors+Show Affiliations

Kelly TE
Division of Medical Genetics, University of Virginia School of Medicine, Charlottesville.
Kirson L
No affiliation info available
Wyatt J
No affiliation info available

MeSH

Abnormalities, MultipleAdultFingersGenes, RecessiveGenetic LinkageHumansIntellectual DisabilityMaleMicrocephalySyndromeToesX Chromosome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8434622

Citation

Kelly, T E., et al. "Microcephaly and Digital Anomalies: a Newly Recognized Syndrome of Recessively Inherited Mental Retardation." American Journal of Medical Genetics, vol. 45, no. 3, 1993, pp. 353-5.
Kelly TE, Kirson L, Wyatt J. Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation. Am J Med Genet. 1993;45(3):353-5.
Kelly, T. E., Kirson, L., & Wyatt, J. (1993). Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation. American Journal of Medical Genetics, 45(3), 353-5.
Kelly TE, Kirson L, Wyatt J. Microcephaly and Digital Anomalies: a Newly Recognized Syndrome of Recessively Inherited Mental Retardation. Am J Med Genet. 1993 Feb 1;45(3):353-5. PubMed PMID: 8434622.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation. AU - Kelly,T E, AU - Kirson,L, AU - Wyatt,J, PY - 1993/2/1/pubmed PY - 1993/2/1/medline PY - 1993/2/1/entrez SP - 353 EP - 5 JF - American journal of medical genetics JO - Am J Med Genet VL - 45 IS - 3 N2 - We describe 2 brothers with congenital microcephaly and moderately severe mental retardation. The presence of identical and symmetrical digital anomalies suggests that this constellation represents a clinically recognizable recessively inherited mental retardation syndrome. Recognition of the clinical diagnosis should provide accurate genetic counseling to parents of a single affected child. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8434622/Microcephaly_and_digital_anomalies:_a_newly_recognized_syndrome_of_recessively_inherited_mental_retardation_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=45&issue=3&spage=353 DB - PRIME DP - Unbound Medicine ER -