Arora Kamaldeep, Thukral Anu, Das Rashmi Ranjan, Gupta Neerja, Kabra Madhulika, Agarwal Ramesh
Division of Neonatology, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Ansari Nagar, New Delhi, 110029, India.
Indian J Pediatr. 2014 Jun;81(6):614-6. doi: 10.1007/s12098-013-1011-1. Epub 2013 Apr 19.
Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with variable expression. The authors report a newborn with FS, whose mother had two previous affected pregnancies with the infants having variable phenotypic expression. FS is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. This is the first published report from India describing a case of FS with familial recurrence, which would serve further to illustrate the clinical variability of this disorder.
弗林斯综合征（FS）是一种多发性先天性异常综合征，以常染色体隐性缺陷形式遗传，表现多样。作者报告了一名患有FS的新生儿，其母亲之前有两次妊娠，所产婴儿也患有该病，但表型不同。FS的特征为颅面部畸形、膈疝和肢体远端发育不全。这是印度发表的首例关于FS家族性复发的报告，将进一步说明该疾病的临床变异性。
