Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency
✍ Scribed by Karen M. Brookhyser; Mark H. Lipson; Ann B. Moser; Hugo W. Moser; Ralph S. Lachman; David L. Rimoin
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 107 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. Biochemical test values are presented for the pregnancies and daughter. Post-mortem tests of one fetus of a terminated pregnancy showed that radiologic examination could not make the diagnosis of RCDP. We conclude that biochemical or molecular testing is necessary to accurately diagnose this type of RCDP prenatally.