Bilateral anophthalmia and intrahepatic biliary atresia, two
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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 the main feature of Fraser syndrome, its absence does not exclude the diagnosis. Clinical diagnosis can be made by Thomas Criteria.

A 19-year-old woman (G2P1), came to the outpatient prenatal clinic for routine visits. Prenatal ultrasound scans of several visits revealed: Hyperechoic lungs, ascites, unremarkable kidney (right), normal sucking reflux and a three-vessels umbilical cord in the 20th-week visit. Relative shortness in upper and lower limbs, nuchal edema, bilateral syndactyly on both hands and feet, hydrops fetalis, the abdominal circumference was 420?mm, enlargement of the lungs, and cardiac compression. The ultrasound estimated weight was 4000?g in the 25th-week visit

On the 39th week of gestation, the fetus was stillborn due to respiratory insufficiency, weighing 3600?g. Gross examination showed multiple abnormalities including: Bilateral anophthalmia, pseudo-hypertelorism, low-set ears, flat nasal bridge, bilateral syndactyly on hands and feet, cutaneous and subcutaneous edema, large-volume ascites, and ambiguous genitalia

Autopsy revealed: normal airways, lung enlargement, no significant cardiac abnormalities, unilateral renal agenesis, a gonad and Mullerian structure were found on the left posterior pelvic wall, and the most outstanding find was the congested liver capsule. Subsequently, based on microscopic examination of the lung and the presence of congenital malformations such as anophthalmia, bilateral syndactyly and renal agenesis, Author Fsuspected: plexiform pulmonary arteriopathy, Fraser Syndrome and Lenz microphthalmia syndrome as differential diagnosis for thid case.

Source: https://bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/s12884-020-03048-x
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