Soulier Marie, Sigaudy Sabine, Chau Cécile, Philip Nicole
Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.
Prenat Diagn. 2002 Jul;22(7):567-8. doi: 10.1002/pd.369.
Stickler syndrome or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and deafness, in variable degrees.We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre-Robin sequence (PRS) causing a polyhydramnios. When isolated polyhydramnios is not explained by immunological, metabolic or infectious causes, swallowing difficulty due to PRS must be considered. As PRS is aetiologically heterogeneous, the prognosis depends on the cause. Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth.
斯蒂克勒综合征或遗传性进行性关节眼病，是一种常染色体显性疾病，其特征为眼部表现、关节炎改变、口面部特征和耳聋，程度各异。我们报告了第一例在患有导致羊水过多的皮埃尔-罗宾序列（PRS）的儿童中进行斯蒂克勒综合征产前诊断的病例。当孤立性羊水过多不能用免疫、代谢或感染原因解释时，必须考虑由于PRS导致的吞咽困难。由于PRS病因多样，预后取决于病因。必须考虑基因检测和家族史。在此，在家族性斯蒂克勒综合征的背景下，将PRS作为斯蒂克勒综合征的一部分进行产前诊断，使我们能够让父母放心，并预测孩子出生时的气道问题。
