Fraser Syndrome: A Case Report of a Very Rare Syndrome

Olena Erkun,Tugba Akin Duman,Oner Ozdemir,Ibrahim Caner,Mine Urfali,Yasemin Anil Eyupoglu Tanriverdi,Tetyana Syrotenko

doi:10.36648/2380-7245.5.3.197

Abstract

Fraser syndrome is a rare autosomal recessive multiple malformation syndrome. It is characterized by cryptophthalmos, cutaneus syndactyly, malformation of the larynx and genitourinary tract, craniofacial dysmorphisms, mental retardation, and musculoskeletal abnormalities. The diagnosis of this syndrome can be made on the basis of physical examination and occasionally with prenatal ultrasound imaging. Various mutations of FRAS1, FREM2 and GRIP1 genes are known to play a role in the etiology of the disorder. In this article we want to introduce a case of a female newborn, who presented with cryptophthalmos, syndactyly of both feet and hands, ambiguous genitalia, anal fistule, umbilical hernia, unilateral renal agenesis, and craniofacial dysmorphism. In this case report, we aimed to present and discuss our patient’s clinical findings, genetic basis of Fraser syndrome and follow-up cases from the literature.

Highlights

IntroductionFraser Syndrome (FS) is a rare autosomal recessive disorder
Olena Erkun1*, Tetyana Syrotenko2, Ibrahim Caner3, Oner Ozdemir4, Mine Urfali5, Tugba Akin Duman6 and Yasemin Anil Eyupoglu Tanriverdi5Fraser Syndrome (FS) is a rare autosomal recessive disorder
Fraser syndrome is characterized by variable expression of cryptophthalmos, cutaneous syndactyly, dysmorphic ears and nose, laryngeal stenosis, renal and genital abnormalities, orofacial clefts, skeletal defects, umbilical hernia and mental retardation

Summary

Introduction

Fraser Syndrome (FS) is a rare autosomal recessive disorder. Fraser syndrome is characterized by variable expression of cryptophthalmos, cutaneous syndactyly, dysmorphic ears and nose, laryngeal stenosis, renal and genital abnormalities (bilateral or unilateral renal agenesis, ambiguous genitalia), orofacial clefts, skeletal defects, umbilical hernia and mental retardation. Cryptophthalmos is the most important diagnostic feature of FS and is present in 90% of affected patients [1,2]. In this report we presented a case of a patient with rare Fraser syndrome. Our patient has multiple organ anomalies, but no fatal ones, like laryngeal malformation or bilateral renal agenesis. The aim of our study is to discuss this case and to show the viability of the affected patient due to phenotype variability of genetic mutations associated with Fraser syndrome

Objectives

Findings

Discussion

Conclusion