Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.
Indian J Pediatr
; 69(1): 109-11, 2002 Jan.
Article
en En
| MEDLINE
| ID: mdl-11876111
In the present article we describe two cases with Morquio-B syndrome characterized by beta-galactosidase deficiency in a Muslim family. They were found to have skeletal dysplasia, short stature and short trunk dwarfism with undetectable level of beta-galactosidase in leucocytes. Probands' sister who had no clinical signs of mucopolysaccharidosis was investigated and found to have normal levels of the enzyme. Mother was found to have a deficient activity of beta-galactosidase and father was not available for the study. Since mother was pregnant, prenatal study from chorionic cells was carried out to investigate beta-galactosidase activity in the chorionic villus. An intermediate level of beta-galactosidase activity was found in the chorionic villus cells suggesting a carrier status. The diversity and rarity of the study makes it worth presenting.
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Bases de datos:
MEDLINE
Asunto principal:
Beta-Galactosidasa
/
Mucopolisacaridosis
Tipo de estudio:
Risk_factors_studies
Límite:
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Indian J Pediatr
Año:
2002
Tipo del documento:
Article
País de afiliación:
India