Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisis.

摘要

The association of retinitis pigmentosa (RP) and skeletal dysplasia is rare and has been reported in few syndromes. Here, we describe a new patient presenting an unusual combination of retinitis pigmentosa (RP), postnatal short stature secondary to growth hormone deficiency and spondyloepiphyseal dysplasia. The combination of retinitis pigmentosa, hypopituitarism, nephronophti-sis, and skeletal dysplasia has been reported previously and named RHYNS syndrome (OMIM 602152). Our patient does not show any renal involvement and skeletal findings are different.