Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report.

BMC Pregnancy and Childbirth
Muhamad Zakaria Brimo AlsamanHamdi Nawfal

Abstract

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. 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. The diagnosis of Fraser syndrome can be made prenatally and postnatally; prenatally by ultrasound at 18 weeks...Continue Reading

References

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Nov 21, 2013·The Pan African Medical Journal·Zouheir Hafidi, Rajae Daoudi
Apr 22, 2015·Journal français d'ophtalmologie·A TouréL Kodjikian
Nov 11, 2015·Italian Journal of Pediatrics·Giuseppe De BernardoDaniele De Brasi
Apr 12, 2016·Pediatric Gastroenterology, Hepatology & Nutrition·Racha KhalafMichael Wilsey
Nov 20, 2016·Prenatal Diagnosis·Aude TessierAnne-Marie Guerrot

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Methods Mentioned

BETA
cesarean section

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