title: Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida.
abstract: Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive. Prenatal ultrasound diagnosis has been reported during the second trimester of pregnancy. Prenatal diagnosis is also possible from the first trimester onwards by demonstration of peroxisomal dysfunction in cultured chorionic villous or amniotic fluid cells. In all cases reported hitherto, the prenatal diagnosis was established after the birth of a previous affected child. In contrast to these studies in pregnant multiparous women at risk for RCDP, we report on the first case of prenatal ultrasound diagnosis of RCDP at 19 weeks' gestation in a primigravida. In addition, a complex cardiac malformation associated with hypoplasia of the thymus (DiGeorge anomaly) is described.
authors.affiliation: Department of Pathology, Academic Hospital Maastricht, The Netherlands.
authors.forename: S H
authors.initials: SH
authors.lastname: Sastrowijoto
authors.forename: K
authors.initials: K
authors.lastname: Vandenberghe
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: J M
authors.initials: JM
authors.lastname: Lauweryns
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000328:Adult; D002806:Chondrodysplasia Punctata / Q000150:complications / Q000000981:diagnostic imaging*; D005260:Female; D005269:Femur / Q000002:abnormalities; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000150:complications / Q000473:pathology; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D008099:Liver / Q000002:abnormalities; D008297:Male; D011247:Pregnancy; D013950:Thymus Gland / Q000473:pathology; D016216:Ultrasonography, Prenatal