Abstract

LUNA CEBALLOS, Elsa; DOMINGUEZ PEREZ, María E.  and  ALVAREZ NUNEZ, Rudbeckia. Spina bifida: A family report. Rev Cubana Ortop Traumatol [online]. 2000, vol.14, n.1-2, pp. 89-91. ISSN 1561-3100.

Spina bifida is a closure defect of the neural tube of multifactorial etiology; however, a few families with a pattern of dominant autosomal inheritance have been reported. In the present paper, starting from an abortion, in which the fetus had lumbosacral rachischisis, the parents were studied and a spina bifida occulta of sacral localization was detected. It was started the study of the maternal family, in which other affected relatives were included. It was proved the existance of an autosomal pattern of dominant inheritance for this entity, on making the pedigree. Taking all this into account, this uncommon presentation or familiar spina bifida is put into the consideration of other specialists.

Keywords : SPINAL DYSRAPHISM [genetics]; SPINA BIFIDA OCCULTA [genetics]; SPINA BIFIDA OCCULTA [ultrasonography]; ULTRASONOGRAPHY, PRENATAL; FETAL DISEASES [diagnosis]; FETAL DISEASES [ultrasonography].

        · abstract in Spanish | French     · text in Spanish     · Spanish ( pdf )