Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

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. B...

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Bibliographic Details
Published in:Prenatal diagnosis 1999-04, Vol.19 (4), p.383-385
Main Authors: Brookhyser, Karen M., Lipson, Mark H., Moser, Ann B., Moser, Hugo W., Lachman, Ralph S., Rimoin, David L.
Format: Article
Language:English
Subjects:
Adult
Alkyl and Aryl Transferases - deficiency
Amniocentesis
Biological and medical sciences
Cartilage - pathology
Chondrodysplasia Punctata, Rhizomelic - diagnosis
Chondrodysplasia Punctata, Rhizomelic - enzymology
Chondrodysplasia Punctata, Rhizomelic - pathology
DHAPAT synthase deficiency
dwarfism
Female
Fibroblasts - ultrastructure
Gestational Age
Gynecology. Andrology. Obstetrics
Humans
Karyotyping
Male
Management. Prenatal diagnosis
Medical sciences
Microbodies - metabolism
Plasmalogens - biosynthesis
Plasmalogens - blood
Pregnancy
Pregnancy. Fetus. Placenta
prenatal diagnosis
Prenatal Diagnosis - methods
rhizomelic chondrodysplasia punctata
Ultrasonography, Prenatal
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Summary: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. Copyright © 1999 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/(SICI)1097-0223(199904)19:4<383::AID-PD544>3.0.CO;2-S