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Case Reports
. 1993 May;81(5 ( Pt 2)):842-4.

Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings

D M Sherer  1 , L A Metlay, R A Sinkin, C Mongeon, R E Lee, J R Woods Jr
Affiliations
  • PMID: 8469493
Case Reports

Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings

D M Sherer et al. Obstet Gynecol. 1993 May.

Abstract

Background: Since 1988, three nonrelated fatal cases of congenital ichthyosis associated with Gaucher disease have been described in Australia.

Case: We present a case of Gaucher disease with congenital ichthyosis and restrictive dermopathy and describe the associated prenatal sonographic findings and pathology of this new syndrome.

Conclusion: The unusual association of congenital ichthyosis with lipid storage disease may be suspected prenatally. A high index of suspicion may prove this condition to be more common than previously thought.

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