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Fryns Syndrome: Diagnosis and Management - Abstract

Hilal Matta , Mustafa Hamchou , Ahmed H. Al-Salem

 

Abstract

Fryns syndrome is a rare autosomal recessive condition characterized by multiple malformations. Congenital diaphragmatic hernia is a cardinal feature, recorded in more than 80% of cases. This is a case report of a newborn with right congenital diaphragmatic hernia, high anorectal malformation with recto-urethral fistula, a sacral dimple, left undescended testis, low set ears, microphthalmia and bilateral syndactly. The literature on the subject is also reviewed and awareness of this condition is important for proper diagnosis and parenteral counselling.

Keywords: Fryns syndrome, congenital diaphragmatic hernia

 

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