Morquio-B syndrome (MPS-IV B) associated with β-galactosidase deficiency in two siblings
| Autor: | Frenny Sheth, Raktima Bhattacharya, Jayesh Sheth |
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| Rok vydání: | 2002 |
| Předmět: |
Male
medicine.medical_specialty Mucopolysaccharidosis Dwarfism Intermediate level Short stature Morquio-B Disease Internal medicine Humans Medicine Sibling Child business.industry Syndrome Mucopolysaccharidoses beta-Galactosidase medicine.disease humanities medicine.anatomical_structure Endocrinology Dysplasia Child Preschool Pediatrics Perinatology and Child Health Chorionic villi medicine.symptom business |
| Zdroj: | The Indian Journal of Pediatrics. 69:109-111 |
| ISSN: | 0973-7693 0019-5456 |
| DOI: | 10.1007/bf02723790 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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