MANDIBULOFACIAL DYSOSTOSIS - REPORT ON 2 BRAZILIAN FAMILIES SUGGESTING AUTOSOMAL RECESSIVE INHERITANCE

Citation
A. Richiericosta et al., MANDIBULOFACIAL DYSOSTOSIS - REPORT ON 2 BRAZILIAN FAMILIES SUGGESTING AUTOSOMAL RECESSIVE INHERITANCE, American journal of medical genetics, 46(6), 1993, pp. 659-664
Citations number
22
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
46
Issue
6
Year of publication
1993
Pages
659 - 664
Database
ISI
SICI code
0148-7299(1993)46:6<659:MD-RO2>2.0.ZU;2-0
Abstract
We report on mandibulofacial dysostosis in 2 brothers born to normal n onconsanguineous parents, and a girl (F = 1/16) born to normal consang uineous parents. Normal clinical, skeletal, audiologic, and cephalomet ric studies in the parents, as well as the absence of limb anomalies i n these children, exclude the autosomal recessive (Nager and Genee-Wid emann) mandibulofacial dysostoses. The data of the present patients as sociated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibulofacial dysostosis. (C) 1993 Wiley-Liss, Inc.