Fraser Syndrome – A Dilemma To Parents

Abstract

In this case report the patient belongs to rural Sindh, with poor prenatal care. She came with her third pregnancy to Ziauddin Hospital referred from interior of Sindh, with the history of previous two premature deliveries due to oligohydramnios. Fraser syndrome is a rare congenital condition that includes multi-organ abnormalities and usually has a poor prognosis. The most obvious deformities noted are cryptophthalmos, syndactyly, laryngeal stenosis, and bilateral renal agenesis, displacement of umbilicus, undescended testes and clitoromegaly. The transmission of the syndrome is autosomal recessive and is caused by a mutation in the FRAS1, FREM2 or GRIP1 genes. The pathology, however, is unclear, but the mutations are known to alter programmed cell death, causing defects in the metabolism of retinoid. The details of the case are the patient was of a 20-year-old female presented in her 3rd pregnancy at 34 weeks of gestational amenorrhea which was complicated with severe oligohydramnios. She delivered an underweight baby via cesarean section who had a poor cry and bradycardia at the time of birth. His structural defects included bilateral syndactly, laryngeal stenosis and undescended testes. The patient also had a history of two cesarean sections. Her first child was born with limb defects and anophthalmia and died immediately after birth. Her second child was terminated due to severely reduced amniotic fluid. Patients with a previous history should have genetic counseling beforehand and prenatal ultrasound based diagnosis. Key Words: Fraser Syndrome, Cryptophthalmos, Syndactyly