D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
case_report · Level V
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- Record sourced from PubMed, PMID 11743515.
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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.
Medical subject headings
- 17-Hydroxysteroid Dehydrogenases
- 3-Hydroxyacyl CoA Dehydrogenases
- Chylous Ascites
- Contracture
- Enoyl-CoA Hydratase
- Foot Deformities, Congenital
- Hand Deformities, Congenital
- Hydro-Lyases
- Multienzyme Complexes
- Polyhydramnios