Abstract
Fetal abnormalities including chylous ascites, polyhydramnios, claw hands, and hammer toes were identified in an infant who had a missense mutation R106P and a 52bp deletion in the gene for a peroxisomal beta-oxidation enzyme, D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase, D-bifunctional protein. The patient had psychomotor retardation and craniofacial dysmorphism and died at 7 months of age. The patient had atypical fetal manifestations of this enzyme deficiency.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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17-Hydroxysteroid Dehydrogenases*
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3-Hydroxyacyl CoA Dehydrogenases / deficiency*
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3-Hydroxyacyl CoA Dehydrogenases / genetics
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Chylous Ascites / complications*
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Chylous Ascites / congenital*
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Chylous Ascites / genetics
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Contracture / complications*
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Contracture / congenital*
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Contracture / genetics
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Enoyl-CoA Hydratase*
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Fatal Outcome
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Female
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Foot Deformities, Congenital / complications*
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Foot Deformities, Congenital / genetics
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Gene Deletion
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Hand Deformities, Congenital / complications*
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Hand Deformities, Congenital / genetics
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Humans
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Hydro-Lyases / deficiency*
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Hydro-Lyases / genetics
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Infant
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Infant, Newborn
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Male
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Multienzyme Complexes / deficiency*
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Multienzyme Complexes / genetics
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Mutation, Missense / genetics
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Peroxisomal Multifunctional Protein-2
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Polyhydramnios / complications*
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Pregnancy
Substances
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Multienzyme Complexes
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17-Hydroxysteroid Dehydrogenases
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3-Hydroxyacyl CoA Dehydrogenases
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Hydro-Lyases
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Peroxisomal Multifunctional Protein-2
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HSD17B4 protein, human
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Enoyl-CoA Hydratase