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Acrocallosal syndrome in two African brothers born to consanguineous parents.
Am J Med Genet. 1994 Jun 01; 51(2):98-101.AJ

Abstract

We describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and together with the parental consanguinity documented in this family, confirm autosomal recessive inheritance of this syndrome. The clinical manifestations in our patients confirm the intrafamilial variability of the syndrome. Postnatal onset of growth retardation is proposed as an additional manifestation of ACS.

Authors+Show Affiliations

Department of Human Genetics and Developmental Biology, University of Pretoria, South Africa.No affiliation info availableNo 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

8092201

Citation

Christianson, A L., et al. "Acrocallosal Syndrome in Two African Brothers Born to Consanguineous Parents." American Journal of Medical Genetics, vol. 51, no. 2, 1994, pp. 98-101.
Christianson AL, Venter PA, Du Toit JL, et al. Acrocallosal syndrome in two African brothers born to consanguineous parents. Am J Med Genet. 1994;51(2):98-101.
Christianson, A. L., Venter, P. A., Du Toit, J. L., Shipalana, N., & Gericke, G. S. (1994). Acrocallosal syndrome in two African brothers born to consanguineous parents. American Journal of Medical Genetics, 51(2), 98-101.
Christianson AL, et al. Acrocallosal Syndrome in Two African Brothers Born to Consanguineous Parents. Am J Med Genet. 1994 Jun 1;51(2):98-101. PubMed PMID: 8092201.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acrocallosal syndrome in two African brothers born to consanguineous parents. AU - Christianson,A L, AU - Venter,P A, AU - Du Toit,J L, AU - Shipalana,N, AU - Gericke,G S, PY - 1994/6/1/pubmed PY - 1994/6/1/medline PY - 1994/6/1/entrez SP - 98 EP - 101 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 51 IS - 2 N2 - We describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and together with the parental consanguinity documented in this family, confirm autosomal recessive inheritance of this syndrome. The clinical manifestations in our patients confirm the intrafamilial variability of the syndrome. Postnatal onset of growth retardation is proposed as an additional manifestation of ACS. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8092201/Acrocallosal_syndrome_in_two_African_brothers_born_to_consanguineous_parents_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=51&issue=2&spage=98 DB - PRIME DP - Unbound Medicine ER -