Tags

Type your tag names separated by a space and hit enter

Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.
Am J Med Genet. 1993 Jul 01; 46(6):659-64.AJ

Abstract

We report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absence of limb anomalies in these children, exclude the autosomal recessive (Nager and Genée-Widemann) mandibulofacial dysostoses. The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibulofacial dysostosis.

Authors+Show Affiliations

Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de 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

Language

eng

PubMed ID

8362908

Citation

Richieri-Costa, A, et al. "Mandibulofacial Dysostosis: Report On Two Brazilian Families Suggesting Autosomal Recessive Inheritance." American Journal of Medical Genetics, vol. 46, no. 6, 1993, pp. 659-64.
Richieri-Costa A, Bortolozo MA, Lauris JR, et al. Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance. Am J Med Genet. 1993;46(6):659-64.
Richieri-Costa, A., Bortolozo, M. A., Lauris, J. R., Lauris, R. C., Guion-Almeida, M. L., Marques, D., & Moreti, D. (1993). Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance. American Journal of Medical Genetics, 46(6), 659-64.
Richieri-Costa A, et al. Mandibulofacial Dysostosis: Report On Two Brazilian Families Suggesting Autosomal Recessive Inheritance. Am J Med Genet. 1993 Jul 1;46(6):659-64. PubMed PMID: 8362908.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance. AU - Richieri-Costa,A, AU - Bortolozo,M A, AU - Lauris,J R, AU - Lauris,R C, AU - Guion-Almeida,M L, AU - Marques,D, AU - Moreti,D, PY - 1993/7/1/pubmed PY - 1993/7/1/medline PY - 1993/7/1/entrez SP - 659 EP - 64 JF - American journal of medical genetics JO - Am J Med Genet VL - 46 IS - 6 N2 - We report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absence of limb anomalies in these children, exclude the autosomal recessive (Nager and Genée-Widemann) mandibulofacial dysostoses. The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibulofacial dysostosis. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8362908/Mandibulofacial_dysostosis:_report_on_two_Brazilian_families_suggesting_autosomal_recessive_inheritance_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=46&issue=6&spage=659 DB - PRIME DP - Unbound Medicine ER -