Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.
dc.contributor.author | Sheth, Jayesh J | en_US |
dc.contributor.author | Sheth, Frenny J | en_US |
dc.contributor.author | Bhattacharya, Raktima | en_US |
dc.date.accessioned | 2002-01-06 | en_US |
dc.date.accessioned | 2009-05-30T13:51:15Z | |
dc.date.available | 2002-01-06 | en_US |
dc.date.available | 2009-05-30T13:51:15Z | |
dc.date.issued | 2002-01-06 | en_US |
dc.description.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. | en_US |
dc.description.affiliation | Foundation for Research in Genetics & Endocrinology (FRIGE), Genetics Centre, 20/1, Bimanagar, Satellite Road, Ahmedabad-380 015, India. jsheth@vsnl.com | en_US |
dc.identifier.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 | en_US |
dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/82094 | |
dc.language.iso | eng | en_US |
dc.source.uri | https://medind.nic.in/icb/icbai.shtml | en_US |
dc.subject.mesh | Child | en_US |
dc.subject.mesh | Child, Preschool | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Mucopolysaccharidoses --genetics | en_US |
dc.subject.mesh | Syndrome | en_US |
dc.subject.mesh | beta-Galactosidase --deficiency | en_US |
dc.title | Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings. | en_US |
dc.type | Case Reports | en_US |
dc.type | Journal Article | en_US |
Files
License bundle
1 - 1 of 1