Couvreur-Lionnais Stéphanie, Rousseau Thierry, Laurent Nicole, Thauvin-Robinet Christel, Senet-Lacombe Eve, Delezoïde Anne Lise, Mugneret Francine, Durand Christine, Faivre Laurence, Sagot Paul
Clinique Gynécologique et Obstétricale, Centre Hospitalier Universitaire, Dijon, France.
Prenat Diagn. 2005 Feb;25(2):172-5. doi: 10.1002/pd.943.
Juberg-Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg-Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg-Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate.
朱伯格 - 海沃德综合征是一种罕见的常染色体隐性综合征，其特征为生长发育迟缓、小头畸形、唇腭裂以及拇指和桡侧射线异常。迄今为止，尚未有产前病例的报道。在此，我们报告首例朱伯格 - 海沃德综合征产前病例。该诊断是在胎儿病理学研究后确立的。除了该综合征的主要特征外，此产前病例因短臂畸形的严重程度以及发现的大脚趾缺如和脑部异常（包括脑积水、胼胝体发育不全和小脑发育不全）而引人注目。我们得出结论，在超声诊断出宫内生长受限、小头畸形、拇指/桡侧异常和唇腭裂相关联后，可在产前讨论朱伯格 - 海沃德综合征的诊断。
