Van Hove J L, Spiridigliozzi G A, Heinz R, McConkie-Rosell A, Iafolla A K, Kahler S G
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Am J Med Genet. 1995 Nov 20;59(3):334-40. doi: 10.1002/ajmg.1320590311.
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition. We report on a three-year-old survivor with Fryns syndrome, and provide a review on the outcome of other survivors. Patients who survive the neonatal period represent 14% of reported cases. Characteristics of survivors include less frequent diaphragmatic hernia and milder lung hypoplasia, absence of complex cardiac malformation, and neurologic impairment. Multiple central nervous system abnormalities have been reported in Fryns syndrome, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, enlarged ventricles, and hypoplasia of the olfactory bulbs. Our patient exhibited profound mental retardation. He had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond the optic chiasm. Understanding of long-term outcome of survivors is important for counseling of families with Fryns syndrome. Careful brain examination is advised; however, a normal radiological brain examination does not preclude developmental delay. The spectrum of individual outcome and of associated anomalies indicates that individual evaluation, including imaging for structural brain malformation, is strongly advised.
弗林斯综合征是一种常染色体隐性遗传的多发性先天性异常综合征，其特征为膈疝、特殊面容和肢体远端发育不全。该病最初被报道为致死性疾病。我们报告了一名患有弗林斯综合征的3岁幸存者，并对其他幸存者的预后进行了综述。存活至新生儿期后的患者占已报道病例的14%。幸存者的特征包括膈疝发生率较低、肺发育不全较轻、无复杂心脏畸形以及存在神经功能障碍。弗林斯综合征中已报道有多发性中枢神经系统异常，包括胼胝体发育不全、丹迪-沃克畸形、小脑异位、小脑发育不全、脑室扩大以及嗅球发育不全。我们的患者表现出严重智力发育迟缓。他存在脑回和脑沟畸形，尤其是中央沟周围，以及视交叉后方的视束发育不全。了解幸存者的长期预后对于为患有弗林斯综合征的家庭提供咨询很重要。建议进行仔细的脑部检查；然而，正常的脑部放射学检查并不能排除发育迟缓。个体预后及相关异常的范围表明，强烈建议进行个体评估，包括针对脑部结构畸形的影像学检查。
