D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
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Nakano K, Zhang Z, Shimozawa N, Kondo N, Ishii N, Funatsuka M, Shirakawa S, Itoh M, Takashima S, Une M, Kana-aki RR, Mukai K, Osawa M, Suzuki Y
D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
J Pediatr. 2001 Dec;139(6):865-7.
- PubMed ID
- 11743515 [ View in PubMed]
- 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.