Introduction: Robinow syndrome is a rare genetic disorder characterized by mesomelic dwarfism, characteristic facial features, skeletal abnormalities and external genital abnormalities. Genital abnormalities may be noted in these patients and may cause confusion in gender assignment. In males, the characteristic pattern is micropenis with or without cryptorchidism, webbed penis or hypoplastic scrotum. In females, the anatomical defect is not always evident.There is hypoplastic clitoris and labia minora.
Aim of the study: This work aimed at defining the genital abnormalities in 11 patients with Robinow syndrome following up in Alexandria University Children's Hospital.
Subjects and Methods: Eleven patients having Robinow syndrome were subjected to full history taking, detailed clinical examination and anthropometric measurements including height, weight, and head circumference. Furthermore, parents and available siblings were examined. X-ray studies, echocardiography, and chromosomal analysis, done by G-banding technique using peripheral blood sample, were performed for these patients.
Results: The study included 11 patients with Robinow syndrome. They included 7 boys and 4 girls. Their age ranged from 3 months to 66 months. History of consanguinity was found in 63.6% of these patients. Two patients had history of similar condition in their families. All of them had mesomelic short stature and the characteristic facial features. Five cases had cardiac anomalies. Limbs anomalies such as clinodactyly, polydactyly, syndactyly and simian crease were observed in some of them. As regard genital abnormalities, all girls had no genital abnormalities. However, 90.9% of boys had genital abnormalities. Hypospadias was observed in 18.2% of boys, micropenis in 18.2%, cryptorchidism in 18.2% and hypoplastic scrotum in 18.2% of them. These anomalies were found either isolated or in combination in the form of disorder of sex development.
Conclusion: Robinow syndrome is diagnosed based on clinical and radiological findings. Genital abnormalities were very evident among male population in our cohort. These abnormalities include hypospadias, micropenis, hypoplastic scrotum, cryptorchidism or ambigious genitalia.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology