Peripheral dysostosis associated with juvenile nephronophthisis

The association of peripheral dysostosis (PD) with chronic renal failure is well documented. Herdman and Langer (1968) reported PD and renal failure in a child with asphyxiating thoracic dystrophy. Recently, Saldino and Mainzer (1971) described two siblings with PD, juvenile nephronophthisis and retinitis pigmentosa. We would like to report another case of PD associated with juvenile nephronophthisis. In addition to cone-shaped epiphyses in the hands and feet, this patient also showed femoral neck changes very similar to those present in one of the siblings reported by Saldino and Mainzer.