Fryns Syndrome in Monozygotic Twins: A Case Report with Review of Literature

Abstract

SUMMARY:Fryns syndrome is a rare multiple congenital anomaly syndrome. The syndrome is characterized by congenital diaphragmatic hernia, unusual facial features and distal limb abnormalities. Here we report a case of monozygotic twins with Fryns syndrome of consanguine parents with normal first child. The mother with 20 weeks of gestation having hyperemesis was referred from a primary health centre to the department of obstetrics and gynaecology at our hospital with polyhydramnios detected in ultrasonogram. Detailed ultrasound was done and after finding that both babies having multiple congenital anomalies, emergency caeserian section was done. The malformations in the twins suggestive of Fryns syndrome.

What is your diagnosis?

“…Fryns syndrome is a rare, autosomal recessive disorder with multiple congenital anomalies and has a prevalence of about 0.7 per 10,000 births ( 1 ). It is characterized by diaphragmatic defects, typical face, distal digital or nail hypoplasia, pulmonary hypoplasia and some associated anomalies which may include polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia/renal cortical cysts, and/or malformations including the cardiovascular system, gastrointestinal system, brain or the genitals.…”