A Rare Case of Genito-Patellar Syndrome (GPS) From Khartoum-Sudan

Omer Saeed Magzoub,  MD¹, Hajir Ali Elhag, MD² and Satti Abdelrahim Satti,  MD, CABP³

¹Assistant Professor, Department of Pediatrics, Alamal National Hospital, Khartoum, Sudan.

²Assistant Professor, Nile College, Khartoum, Sudan.

³Associate Professor, Department of Pediatrics, Alamal National Hospital, Khartoum, Sudan.

*Corresponding Author E-mail: omagzoub@hotmail.com; Tel: 00249919912003

Accepted 11 September, 2014

Abstract

Genito-patellar syndrome (GPS) is a newly described condition that comprises absent patellae, genital and renal malformations, joint dislocation, flattened nasal bridge, short stature and mental retardation. Agenesis of corpus callosum is one of the recognized features. More recently, cardiac anomalies and ectodermal dysplasia have been suggested as additional features. Severe symptomatic osteoporosis, endocrine abnormalities including primary hypothyroidism and delayed puberty, sensori-neural hearing loss and cleft palate are additional features. Prenatal diagnosis is possible.  We report here this rare syndrome in a seven days old male baby delivered after a term pregnancy but without regular antenatal care.

Keywords:  Absent patellae, genital and renal malformation, joint contracture, Sudan.