Mucopolysaccharidosis type VII associated with hydrops fetalis: Histopathological and ultrastructural features with genetic implications

Journal of Clinical Pathology

Volumn 50, Issue 3, 1997, Pages 252-254

  Molyneux, A J ^a   Blair, E ^b   Coleman, N ^c   Daish, P ^a  

^a NORTHAMPTON GENERAL HOSPITAL NHS TRUST   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Electron microscopy; Hydrops fetalis; Mucopolysaccharidosis type VII

Indexed keywords

ARTICLE; AUTOPSY; CASE REPORT; FETUS HYDROPS; FOAM CELL; HUMAN; HUMAN TISSUE; MALE; MUCOPOLYSACCHARIDOSIS TYPE 7; NEWBORN; PRIORITY JOURNAL; ULTRASTRUCTURE;

EID: 0030898604     PISSN: 00219746     EISSN: None     Source Type: Journal    
DOI: 10.1136/jcp.50.3.252     Document Type: Article

References (10)

1. Keeling JW. Hydrops fetalis and other forms of excess fluid accumulation in the fetus. In: Wigglesworth JS, Singer DB, eds. Textbook of fatal and perinatal pathology. Boston: Blackwell Scientific Publications, 1991:429-54.
2. Dimmick JE, Applegarth DA. Inborn metabolic diseases of the perinatal infant. In: Wigglesworth JS, Singer DB, eds. Textbook of fetal and perinatal pathology. Boston: Blackwell Scientific Publications, 1991:593-643.
3. Neufeld EF, Muenzer J. In: Scriver C, Beauclef AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. New York: McGraw Hill, 1995:2466-94.
4. Miller RD, Hoffmann JW, Powell PP, Kyle JW, Shipley JM, Backinsky DR, et al. Cloning and characterisation of the human beta-glucuronidase gene. Genomics 1990;7:208-83.
5. 1 splice site. Hum Mol Genet 1994;4:651-5.
6. Kagie MJ, Kleijer WJ, Huijmans JG, Maaswinkel-Mooy P, Kanhai HH. Beta-glucuronidase deficiency as a cause of fetal hydrops. Am J Med Genet 1992;42:693-5.
7. Nelson A, Pederson L, Frampton B, Sly WS. Mucopolysac-charidosis VII (beta glucuronidase deficiency) presenting as non-immune hydrops fetalis. J Pediatr 1982;101:574-6.
8. Irani D, Kin HS, El-Hibri H, Dutton RV, Beaudet A, Armstrong D. Postmortem observations on beta glucuronidase deficiency presenting as hydrops fetalis. Ann Neurol 1983;14:486-90.
9. Nelson J, Kenny B, O'Hara D, Harper A, Broadhead D. Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis. J Clin Pathol 1993;46:370-1.
10. Chabas A, Guardiola A. Beta-glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid. Prenat Diagn 1993;13:429-33.