Please use this identifier to cite or link to this item: http://imsear.hellis.org/handle/123456789/82094
Title: Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.
Authors: Sheth, Jayesh J
Sheth, Frenny J
Bhattacharya, Raktima
Issue Date: 6-Jan-2002
Citation: Sheth JJ, Sheth FJ, Bhattacharya R. Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings. Indian Journal of Pediatrics. 2002 Jan; 69(1): 109-11
Abstract: 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.
URI: http://imsear.hellis.org/handle/123456789/82094
Appears in Collections:Indian Journal of Pediatrics

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