Abstract
We report a newborn male baby who had deformity and shortening of both femurs. He had expressionless face associated with typical pursed appearance of the mouth, blepharophimosis, multiple joint contractures and overlapping fingers. Epiphyseal dysplasia of the capital femoral epiphyses, hypoplastic ilea, horizontally dysplastic acetabula, coxa vara, shortening of the femoral necks, broad femora and tibiae with bilateral but asymmetrical degrees of mild bowing were noted. DNA analysis was consistent with the diagnosis of StuveWiedemann syndrome. After mechanical ventilation was for 11 days, infant was discharged on home oxygen therapy.