Prenatal ultrasound findings in a fetus diagnosed with Gaucher's disease (type 2) at birth

Prenatal Diagnosis

Volumn 17, Issue 8, 1997, Pages 765-769

  Rowlands, Shelley ^a   Murray, Henry ^a  

^a WESTMEAD HOSPITAL   (Australia)

Author keywords

Gaucher's disease; Hepatosplenomegaly; Neurological abnormalities

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; FETUS ECHOGRAPHY; GAUCHER DISEASE; HEPATOSPLENOMEGALY; HUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; FEMALE; FETAL DISEASES; GAUCHER DISEASE; HEPATOMEGALY; HUMANS; PREGNANCY; SPLENOMEGALY; ULTRASONOGRAPHY, PRENATAL;

POMACANTHUS MACULOSUS;

EID: 0030878604     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199708)17:8<765::AID-PD122>3.0.CO;2-3     Document Type: Article

References (10)

1. Beutler, E. (1993). Modern diagnosis and treatment of Gaucher's disease. Am. J. Dis. Child., 147, 1175-1183.
2. Beutler, E., Grabowski, G.A. (1994). Glycosylceramide lipidoses: Gaucher disease. In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (Eds). The Molecular Bases of Inherited Disease, 7th edn, New York: McGraw-Hill, 2641-2678.
3. Beutler, E., Nguyen, N.J., Henneberger, M.W., Smolec, J.M., McPherson, R.A., West, C., Gelbart, T. (1993). Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am. J. Hum. Genet., 52, 85-88.
4. Ginsburg, S.J., Groll, M. (1973). Hydrops fetalis due to infantile Gaucher's disease, J. Pediatr., 82, 1046-1048.
5. Lui, K., Commens, C., Choong, R., Choong, R., Jaworski, R. (1988). Collodian babies with Gaucher's disease, Arch. Dis. Child. 63, 854-865.
6. Sherer, D.M., Metlay, L.A., Sinkin, R.A., Mongeon, C. (1993). Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathological findings. Obstet. Gynecol., 81, 842-844.
7. Sidransky, E., Sherer, D.M., Ginns, E.I. (1992). Gaucher's disease in the neonate: a distinct mouse model created by targeted disruption of the glucocerebrosidase gene, Pediatr. Res., 32, 494-498.
8. Theophyilus, B., Latham, J., Grabowski, G.A., Smith, F.I. (1989). Gaucher disease: molecular heterogeneity and phenotype genotype correlations, Am. J. Hum. Genet., 45, 212-225.
9. Tsuji, S., Martin, B.M., Barranger, J.A., Stubblefield, B.K., LaMarca, M.E., Ginns, E.I. (1988). Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals, Proc. Natl. Acad. Sci. U.S.A., 85, 2349-2352.
10. Zimran, A., Elstein, D., Abrahamov, A., Kuhl, W., Brown, K.H., Beutler, E. (1995). Prenatal molecular diagnosis of Gaucher disease, Prenat. Diagn., 15, 1185-1188.