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
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.