title: Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.
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.
authors.affiliation: Foundation for Research in Genetics & Endocrinology (FRIGE), Genetics Centre, 20/1, Bimanagar, Satellite Road, Ahmedabad-380 015, India. jsheth@vsnl.com
authors.forename: Jayesh J
authors.initials: JJ
authors.lastname: Sheth
authors.forename: Frenny J
authors.initials: FJ
authors.lastname: Sheth
authors.forename: Raktima
authors.initials: R
authors.lastname: Bhattacharya
mesh_terms: D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000235:genetics*; D013577:Syndrome; D001616:beta-Galactosidase / Q000172:deficiency / Q000235:genetics*
chemical_list: D001616:beta-Galactosidase