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

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.

Case presentation

During pregnancy, several ultrasound scans revealed hyperechoic lungs, ascites, and unremarkable right kidney at the 19th-week visit; bilateral syndactyly on both hands and f

SUBMITTER: Brimo Alsaman MZ 

PROVIDER: S-EPMC7288532 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature