Sastrowijoto S H, Vandenberghe K, Moerman P, Lauweryns J M, Fryns J P
Department of Pathology, Academic Hospital Maastricht, The Netherlands.
Prenat Diagn. 1994 Aug;14(8):770-6. doi: 10.1002/pd.1970140821.
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.
肢根型点状软骨发育不良（RCDP）是一种亚致死性常染色体隐性疾病，其特征为骨骼发育异常、小头畸形、智力发育迟缓、先天性白内障、关节挛缩、皮肤改变和生长发育不良。已报道在妊娠中期可通过产前超声进行诊断。从妊娠早期开始，通过检测培养的绒毛膜绒毛或羊水细胞中的过氧化物酶体功能障碍也可进行产前诊断。在迄今报道的所有病例中，产前诊断都是在之前有患病孩子出生后才得以确立。与这些针对有RCDP风险的经产妇的研究不同，我们报告了首例在初产妇妊娠19周时通过产前超声诊断RCDP的病例。此外，还描述了一种与胸腺发育不全相关的复杂心脏畸形（迪乔治综合征）。
