A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis

European Journal of Pediatrics

Volumn 162, Issue 7-8, 2003, Pages 520-521

  Walter Nicolet, Elisabeth ^a   Rakza, Thameur ^a   Storme, Laurent ^a   Vaillant, Catherine ^a   Magnenant, Eric ^a   Cremer, Robin ^a   Thumerelle, Caroline ^a   Dobbelaere, Dries ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCURONIDASE; LYSOSOME ENZYME;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 7Q; CLINICAL FEATURE; ENZYME DEFICIENCY; FACE DYSMORPHIA; FAMILY STUDY; FEMALE; FETUS; FETUS HYDROPS; FIBROBLAST; GENE LOCUS; HEPATOSPLENOMEGALY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LEUKOCYTE; LUNG HYPOPLASIA; MUCOPOLYSACCHARIDOSIS; NEONATAL RESPIRATORY DISTRESS SYNDROME; PRIORITY JOURNAL; SERUM;

EID: 0041846893     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1198-7     Document Type: Article

References (7)

1. Gehler J, Cantz M, Tolksdorf M, Spranger J, Gilbert E, Drube H (1974) Mucopolysaccharidosis VII: β-glucuronidase deficiency. Hum Genet 23: 149-158
2. Lee J, Falk R, Ng W, Donnell G (1985) Beta-glucuronidase deficiency: a heterogenous mucopolysaccharidosis. Am J Dis Child 139: 57-59
3. Lissens W, Dedobbeleer G, Foulon W, De Catte L, Charels K, Goossens A, Liebaers I (1991) Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis. Prenat Diag 11: 405-410
4. Molyneux AJ, Blair E, Coleman N, Daish P (1997) Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. J Clin Pathol 50: 252-254
5. Nelson A, Peterson L, Frampton B, Sly W (1973) Mucopolysaccharidosis type VII (beta-glucuronidase deficiency) presenting as non immune hydrops fetalis. J Pediatr 101: 574-576
6. Pfeiffer R, Kresse H, Bäumer N, Sattinger E (1977) Beta-glucuronidase deficiency in a girl with unusual clinical features. Eur J Pediatr 126: 155-161
7. Sly W, Quinton B, McAlister W, Rimoin D (1973) Beta glucuronidase deficiency: report of clinical, radiological, and biochemical features of a new mucoplysaccharidosis. J Pediatr 82: 249-257