Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: Possible familial RHYNS syndrome

Here we report two brothers with retinitis pigmentosa, growth hormone defic iency, and acromelic skeletal dysplasia. me propose that their clinical pic ture is consistent with RHYNS syndrome (retinitis pigmentosa, hypopituitari sm, nephronophthisis, and skeletal dysplasia) and that they represent the f irst instance of a familial occurrence of this syndrome. The presence of RH YNS in two siblings supports an autosomal recessive mode of inheritance; ho wever, since all four known cases were male, an X-linked mode of inheritanc e cannot be excluded. The combination of clinical features found in these a ffected males is unique and supports the existence of RHYNS syndrome as a s eparate and distinct entity. (C) 2001 Wiley-Liss, Inc.