New clinical signs at Fraccaro syndrome (49, XXXXY)-bilateral club foot: A case report

Abstract

Fraccaro syndrome: 49, XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. We reported a six month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthal folds, high arched palate, down set ears, micrognathy and patent ductus arteriosus. Among the skeletal anomalies, except ulnoradial distal dislocation and kyphoscoliosis, at first discovered bilateral club foot. Karyotype was found as 49, XXXXY and this cytogenetic analysis was help to establish clinical diagnosis Fraccaro syndrome.