1.
Lancet
; 2(7316): 1069, Nov. 16, 1963.
Artigo
em Inglês
| MedCarib
| ID: med-9617
Assuntos
Humanos , Cromossomo X , Marcadores Genéticos , Cromatina Sexual , Pele/diagnóstico por imagem , Interfase , Timidina
2.
Am J Med Genet
; 46(6): 712-4,
Artigo
em Inglês
| MedCarib
| ID: med-15454
RESUMO
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)