The Eurasian Journal of Medicine
Case Report

A CASE WITH FRYNS SYNDROME-LIKE PHENOTYPE

Eurasian J Med 2005; 37: 19-21
Read: 1315 Downloads: 1220 Published: 03 September 2019

Abstract

Fryns syndrome is a rare autosomal recessive disorder with a heterogeneous phenotype. So far, about 112 cases have been reported and phenotypic heterogeneity has been shown. We are describing a male patient having facial dysmorphism, radial polydactyly, nail hypoplasia, ventricular septal defect, patent ductus arteriosus and intestinal adhesions. The patient was born after in vitro fertilization. With these findings, we thought that the patient may be a case with Fryns syndrome-like phenotype.

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EISSN 1308-8742