Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.

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dc.contributor.authorSheth, Jayesh Jen_US
dc.contributor.authorSheth, Frenny Jen_US
dc.contributor.authorBhattacharya, Raktimaen_US
dc.date.accessioned2002-01-06en_US
dc.date.accessioned2009-05-30T13:51:15Z
dc.date.available2002-01-06en_US
dc.date.available2009-05-30T13:51:15Z
dc.date.issued2002-01-06en_US
dc.description.abstractIn 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.en_US
dc.description.affiliationFoundation for Research in Genetics & Endocrinology (FRIGE), Genetics Centre, 20/1, Bimanagar, Satellite Road, Ahmedabad-380 015, India. jsheth@vsnl.comen_US
dc.identifier.citationSheth 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): 109-11en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/82094
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMucopolysaccharidoses --geneticsen_US
dc.subject.meshSyndromeen_US
dc.subject.meshbeta-Galactosidase --deficiencyen_US
dc.titleMorquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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