Fraccaro Syndrome: Report of Two Iranian Cases: An Infant and an Adult in A Family

• Main Authors: Fatemeh Hadipour, Yousef Shafeghati, Eiman Bagherizadeh, Farkhondeh Behjati, Zahra Hadipour
• Format: Article
• Language: English
• Published: Tehran University of Medical Sciences 2013-12-01
• Series: Acta Medica Iranica
• Subjects: 49 XXXXY; Fraccaro syndrome; Facial dysmorphism; Skeletal anomalies
• Online Access: https://acta.tums.ac.ir/index.php/acta/article/view/4325

49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (PDA), Atrial septal defect (ASD), mild pulmonary stenosis. Among the skeletal anomalies, he has kyphoscoliosis, clinodactyly of the fourth and fifth fingers of both hands, and bilateral club foot and unilateral dysplasia of the hip. Karyotype was found as 49,XXXXY[44]/48,XXXY[6] and this cytogenetic analysis was help to establish clinical diagnosis Fraccaro syndrome.