ISSN 1308-8734 | E-ISSN 1308-8742
Case Report
A CASE WITH FRYNS SYNDROME-LIKE PHENOTYPE
1 Department of Medical Genetics (AT,SÖ) and Department of Pediatrics (RÖ), Ataturk University, School of Medicine, Erzurum, Turkey  
Eurasian J Med 2005; 37: 19-21

Key Words: Fryns syndrome, Autosomal recessive disorder, Phenotypic heterogeneity
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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