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Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome?
Am J Med Genet. 1992 Aug 01; 43(6):946-8.AJ

Abstract

We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others.

Authors+Show Affiliations

Serviço de Genética, Hospital Infantil Darcy Vargas, São Paulo, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

1415344

Citation

dos Santos, R de C., et al. "Ophthalmological, Skeletal, and Cardiac Abnormalities in Sibs Born to Consanguineous Parents: a New Syndrome?" American Journal of Medical Genetics, vol. 43, no. 6, 1992, pp. 946-8.
dos Santos Rde C, Castro NH, Ferraz OP, et al. Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome? Am J Med Genet. 1992;43(6):946-8.
dos Santos, R. d. e. . C., Castro, N. H., Ferraz, O. P., Walter-Moura, J., Mustachi, Z., Pagnan, N. A., & Gollop, T. R. (1992). Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome? American Journal of Medical Genetics, 43(6), 946-8.
dos Santos Rde C, et al. Ophthalmological, Skeletal, and Cardiac Abnormalities in Sibs Born to Consanguineous Parents: a New Syndrome. Am J Med Genet. 1992 Aug 1;43(6):946-8. PubMed PMID: 1415344.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome? AU - dos Santos,R de C, AU - Castro,N H, AU - Ferraz,O P, AU - Walter-Moura,J, AU - Mustachi,Z, AU - Pagnan,N A, AU - Gollop,T R, PY - 1992/8/1/pubmed PY - 1992/8/1/medline PY - 1992/8/1/entrez SP - 946 EP - 8 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 43 IS - 6 N2 - We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1415344/Ophthalmological_skeletal_and_cardiac_abnormalities_in_sibs_born_to_consanguineous_parents:_a_new_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=43&issue=6&spage=946 DB - PRIME DP - Unbound Medicine ER -