Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?

Am J Med Genet. 1997 Nov 28;73(1):1-4. doi: 10.1002/(sici)1096-8628(19971128)73:1<1::aid-ajmg1>3.0.co;2-y.

Abstract

We report on a 17 6/12-year-old boy with nephronophthisis, retinitis pigmentosa, left upper eyelid ptosis, enopthalmos, transmissive deafness, GH and TSH deficiency, and mild skeletal dysplasia. A similar case was reported by Bianchi et al. [1988: Helv Paediatr Acta 43:449-455] in another Italian patient. Here we confirm the previous observations and argue that both patients might be affected by a new syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Abnormalities, Multiple / therapy
  • Adolescent
  • Humans
  • Hypopituitarism* / genetics
  • Hypopituitarism* / physiopathology
  • Hypopituitarism* / therapy
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / physiopathology
  • Kidney Diseases, Cystic / therapy
  • Male
  • Osteochondrodysplasias* / genetics
  • Osteochondrodysplasias* / physiopathology
  • Osteochondrodysplasias* / therapy
  • Retinitis Pigmentosa* / genetics
  • Retinitis Pigmentosa* / physiopathology
  • Retinitis Pigmentosa* / therapy
  • Syndrome