Tags

Type your tag names separated by a space and hit enter

Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot.
Am J Med Genet. 1984 Jan; 17(1):375-82.AJ

Abstract

A male infant, who died of renal insufficiency at 6 months, had 2 similarly affected maternal uncles who died at 16 and 6 months respectively. Their manifestations include microcephaly, a large anterior fontanel, short nose with anteverted nostrils, club foot deformity, retarded psychomotor development and, in the index case only, kidney hypoplasia and dysplasia. The 2 obligatory carriers of this evidently X-linked recessive syndrome had no physical abnormalities.

Links

Publisher Full Text

Authors

Holmes LB
No affiliation info available
Gang DL
No affiliation info available

MeSH

Abnormalities, MultipleClubfootFaceFemaleGenes, RecessiveHeterozygoteHumansInfantIntellectual DisabilityMaleMicrocephalyPedigreeSyndromeX Chromosome

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

6711605

Citation

Holmes, L B., and D L. Gang. "Brief Clinical Report: an X-linked Mental Retardation Syndrome With Craniofacial Abnormalities, Microcephaly and Club Foot." American Journal of Medical Genetics, vol. 17, no. 1, 1984, pp. 375-82.
Holmes LB, Gang DL. Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot. Am J Med Genet. 1984;17(1):375-82.
Holmes, L. B., & Gang, D. L. (1984). Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot. American Journal of Medical Genetics, 17(1), 375-82.
Holmes LB, Gang DL. Brief Clinical Report: an X-linked Mental Retardation Syndrome With Craniofacial Abnormalities, Microcephaly and Club Foot. Am J Med Genet. 1984;17(1):375-82. PubMed PMID: 6711605.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot. AU - Holmes,L B, AU - Gang,D L, PY - 1984/1/1/pubmed PY - 1984/1/1/medline PY - 1984/1/1/entrez SP - 375 EP - 82 JF - American journal of medical genetics JO - Am J Med Genet VL - 17 IS - 1 N2 - A male infant, who died of renal insufficiency at 6 months, had 2 similarly affected maternal uncles who died at 16 and 6 months respectively. Their manifestations include microcephaly, a large anterior fontanel, short nose with anteverted nostrils, club foot deformity, retarded psychomotor development and, in the index case only, kidney hypoplasia and dysplasia. The 2 obligatory carriers of this evidently X-linked recessive syndrome had no physical abnormalities. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6711605/Brief_clinical_report:_an_X_linked_mental_retardation_syndrome_with_craniofacial_abnormalities_microcephaly_and_club_foot_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=17&issue=1&spage=375 DB - PRIME DP - Unbound Medicine ER -