Genetic counseling in acrocallosal syndrome.
Indian J Pediatr
;
2003 Feb; 70(2): 169-71
Artículo
en Inglés
| IMSEAR
| ID: sea-81212
ABSTRACT
This article reports two families with children having acrocallosal syndrome, an autosomal recessive disorder characterized by agenesis of corpus callosum, facial dysmorphism and polydactyly along with psychomotor retardation. Both families sought genetic counseling in subsequent pregnancies. Although the gene for the disorder is not yet identified, prenatal diagnosis was attempted by ultrasound studies. In both families, an affected fetus was diagnosed in the presence of postaxial polydactyly of hands and absence of corpus callosum. It is emphasized that pediatricians should make precise diagnosis in cases of dysmorphism and mental retardation, as this enable prenatal diagnosis in future pregnancies.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Síndrome
/
Humanos
/
Recién Nacido
/
Ultrasonografía Prenatal
/
Cuerpo Calloso
/
Genes Recesivos
/
Asesoramiento Genético
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2003
Tipo del documento:
Artículo
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