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Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency
Author(s) -
Brookhyser Karen M.,
Lipson Mark H.,
Moser Ann B.,
Moser Hugo W.,
Lachman Ralph S.,
Rimoin David L.
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199904)19:4<383::aid-pd544>3.0.co;2-s
Subject(s) - chondrodysplasia punctata , prenatal diagnosis , medicine , genetics , osteochondrodysplasia , biology , endocrinology , anatomy , pregnancy , fetus
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.