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Abstract：
BACKGROUND: Fraser syndrome or \"cryptophthalmos syndrome\" is a rare autosomal recessive disease. It is characterized by a group of congenital malformations such as: crytophthalmos, syndactyly, abnormal genitalia, and malformations of the nose, ears, and larynx. Although cryptophthalmos is considered as a main feature of Fraser syndrome, its absence does not exclude the diagnosis. Clinical diagnosis can be made by Thomas Criteria. Here we present the first documented case of Fraser Syndrome in Aleppo, Syria that is characterized by bilateral anophthalmia and intrahepatic biliary atresia.
METHODS: During pregnancy, several ultrasound scans revealed hyperechoic lungs, ascites, and unremarkable right kidney at the 19th-week visit; bilateral syndactyly on both hands and feet at the 32nd-week visit. On the 39th week of gestation, the stillborn was delivered by cesarean section due to cephalopelvic disproportion. Gross examination showed bilateral anophthalmia, bilateral syndactyly on hands and feet, low set ears, and ambiguous genitalia. Microscopic examination of the lung, spleen, liver, ovary, and kidneys revealed abnormalities in these organs.
CONCLUSIONS: The diagnosis of Fraser syndrome can be made prenatally and postnatally; prenatally by ultrasound at 18 weeks of gestation and postnatally by clinical examination using Thomas criteria. Moreover, intrahepatic biliary atresia was not described previously with Fraser syndrome; this recommends a more detailed pathologic study for Fraser syndrome cases.
METHODS: During pregnancy, several ultrasound scans revealed hyperechoic lungs, ascites, and unremarkable right kidney at the 19th-week visit; bilateral syndactyly on both hands and feet at the 32nd-week visit. On the 39th week of gestation, the stillborn was delivered by cesarean section due to cephalopelvic disproportion. Gross examination showed bilateral anophthalmia, bilateral syndactyly on hands and feet, low set ears, and ambiguous genitalia. Microscopic examination of the lung, spleen, liver, ovary, and kidneys revealed abnormalities in these organs.
CONCLUSIONS: The diagnosis of Fraser syndrome can be made prenatally and postnatally; prenatally by ultrasound at 18 weeks of gestation and postnatally by clinical examination using Thomas criteria. Moreover, intrahepatic biliary atresia was not described previously with Fraser syndrome; this recommends a more detailed pathologic study for Fraser syndrome cases.
摘要：
背景：Fraser综合征或“隐染色体综合征”是一种罕见的常染色体隐性遗传病。它的特征是一组先天性畸形，例如：冷冻心脏，齐体,异常生殖器,和鼻子的畸形，耳朵,还有喉部.尽管隐斑被认为是弗雷泽综合征的主要特征，它的缺失并不排除诊断。临床诊断可以通过托马斯标准进行。在这里，我们介绍了阿勒颇第一个记录在案的弗雷泽综合症病例，以双侧无眼和肝内胆道闭锁为特征的叙利亚。
方法：在怀孕期间，几次超声波扫描显示肺部高回声，腹水,在第19周的访视中，右肾不明显；在第32周的访视中，双手和脚双侧并肢。在妊娠第39周，由于头盆不相称，死胎通过剖宫产分娩。大体检查显示双侧无眼，双手和脚上的双侧并肢，低耳朵，还有模棱两可的生殖器.肺部显微镜检查，脾,脾肝脏,子房,肾脏显示这些器官异常。
结论：Fraser综合征的诊断可以在产前和产后进行；产前在妊娠18周时通过超声检查，产后使用Thomas标准进行临床检查。此外，先前未对Fraser综合征患者肝内胆管闭锁进行过描述;这建议对Fraser综合征病例进行更详细的病理研究.
方法：在怀孕期间，几次超声波扫描显示肺部高回声，腹水,在第19周的访视中，右肾不明显；在第32周的访视中，双手和脚双侧并肢。在妊娠第39周，由于头盆不相称，死胎通过剖宫产分娩。大体检查显示双侧无眼，双手和脚上的双侧并肢，低耳朵，还有模棱两可的生殖器.肺部显微镜检查，脾,脾肝脏,子房,肾脏显示这些器官异常。
结论：Fraser综合征的诊断可以在产前和产后进行；产前在妊娠18周时通过超声检查，产后使用Thomas标准进行临床检查。此外，先前未对Fraser综合征患者肝内胆管闭锁进行过描述;这建议对Fraser综合征病例进行更详细的病理研究.
