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 deficiency, and acromelic skeletal dysplasia. We propose that their clinical picture is consistent with RHYNS syndrome (retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia) and that they represent the first instance of a familial occurrence of this syndrome. The presence of RHYNS in two siblings supports an autosomal recessive mode of inheritance; however, since all four known cases were male, an X-linked mode of inheritance cannot be excluded. The combination of clinical features found in these affected males is unique and supports the existence of RHYNS syndrome as a separate and distinct entity.