Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature

Abstract

Microcephaly, retinal dysplasia, pedal edema syndrome is a rare syndrome and possibly under diagnosed. We could find less than 25 cases reported in the literature. Patients were initially categorized as having either microcephaly and lymphedema or microcephaly and chorioretinal dysplasia. The existence of the 3 criteria in the same patients is reported. Other features such as mental retardation and short stature were noticed in other patients. In the Pediatric Department of the Armed Forces Hospital Southern Region, Kingdom of Saudi Arabia, we report a case with all clinical manifestations described in the above-related syndromes. The girl has microcephaly, retinal dysplasia, pedal edema, short stature, mental retardation, and some other dysmorphic features. The parents are not relatives, but both have retinal dysplastic changes. This report documents the existence of all different features reported in the literature in one patient, suggesting that different clinical features of reported patients are possibly the variable expression of the same syndrome.