Dix U, Beudt U, Langenbeck U
Institut für Humangenetik, Klinikum der J. W. Goethe-Universität.
Z Geburtshilfe Perinatol. 1991 Nov-Dec;195(6):280-4.
Fryns, in 1979, delineated an autosomal recessive lethal syndrome of multiple congenital malformations, including diaphragmatic defect, craniofacial anomalies and distal limb hypoplasia. So far, 33 cases of Fryns syndrome have been published. We here report the fourth case of Fryns syndrome with consanguinous parents. It was the second child of healthy Turkish parents (first cousins). Pregnancy was complicated by massive polyhydramnios since week 32. Imperforate anus and diaphragmatic defect was detected by ultrasound. Spontaneous delivery occurred in week 37, the child died 5 hrs after birth. Major symptoms were a partial aplasia of the left diaphragm, coarse facies, absent nails of the fifth fingers and fifth toes, VSD, imperforate anus and cerebellar heterotopia. We discuss, in the context of our observation and of the reports in the literature, the possible heterogeneity of Fryns syndrome and the possibility of prenatal diagnosis.
1979年，弗林斯描述了一种常染色体隐性致死性综合征，其具有多种先天性畸形，包括膈缺损、颅面异常和远端肢体发育不全。到目前为止，已发表了33例弗林斯综合征病例。我们在此报告第四例父母近亲结婚的弗林斯综合征病例。这是一对健康的土耳其父母（表亲）的第二个孩子。自第32周起，孕期并发大量羊水过多。超声检查发现肛门闭锁和膈缺损。妊娠37周时自然分娩，孩子出生后5小时死亡。主要症状为左膈部分发育不全、面容粗糙、第五指和第五趾无指甲、室间隔缺损、肛门闭锁和小脑异位。我们结合我们的观察以及文献报道，讨论了弗林斯综合征可能的异质性以及产前诊断的可能性。
