Fryns综合征(FS)是与先天性膈疝(CDH)相关的最常见的常染色体隐性综合征,包括CDH,肺发育不全,颅面异常,远端肢体发育不全,和内部畸形。尽管已有50多例关于先证者的病例报告,诊断指南是在对8例患者进行审查后制定的,只有一次建议对指南进行修改.最近,一些病例报告描述了FS中的新异常,其他论文强调了FS中的表达能力差异.本文研究了有关FS的医学文献,以定义表型并审查诊断指南。我们得出的结论是,CDH伴短臂触角和/或指甲发育不全强烈提示诊断和肺发育不全,颅面畸形,口面裂痕,羊水过多足够频繁,对诊断有用。与FS一致的其他独特畸形包括心室扩张或脑积水,call体的发育不全,神经元或小脑异位症,主动脉异常,肾囊肿,输尿管扩张,双角子宫,肾发育不良,近端拇指,和宽阔的锁骨。
Fryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and comprises CDH, pulmonary hypoplasia, craniofacial anomalies, distal limb hypoplasia, and internal malformations. Although there have been more than 50 case reports on probands with FS, the diagnostic
guidelines were formulated from a review of eight patients and modifications to the
guidelines have only once been suggested. Recently, several case reports have described new anomalies in FS and other papers have highlighted the variation in expressivity found in FS. This paper examines the medical literature on FS to define the phenotype and to review the diagnostic
guidelines. We conclude that CDH with brachytelephalangy and/or nail hypoplasia is strongly suggestive of the diagnosis and that pulmonary hypoplasia, craniofacial dysmorphism, orofacial clefting, and polyhydramnios are sufficiently frequent to be diagnostically useful. Other distinctive malformations that are consistent with FS include ventricular dilatation or hydrocephalus, agenesis of the corpus callosum, neuronal or cerebellar heterotopias, abnormalities of the aorta, renal cysts, dilatation of the ureters, bicornuate uterus, renal dysplasia, proximal thumbs, and broad clavicles.