RESUMEN

Frontonasal dysplasia is thought to be a sporadic condition limited to the face and head. We describe a family from the Bahamas in which a mother, 2 of her children, and the mother's brother have variable manifestations of frontonasal dysplasia. The mother has extremely mild expression, but her brother and 2 sons are more severely affected. Besides polydactyly no other birth defects were noted in any other relatives. The pedigree is consistent with autosomal or X-linked dominant inheritance. A descriptive of each patient is presented along with a discussion of the genetic counseling issues and review of the literature for other possibly familial cases of frontonasal dysplasia. (AU)

Asunto(s)

Humanos , Masculino , Femenino , Cara/anomalías , Nariz/anomalías , Adolescente , Adulto , Niño , Ligamiento Genético , Linaje , Cromosoma X