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

Maja Di Rocco, Paolo Picco, Araxi Arslanian, Gabriella Restagno, Francesco Perfumo, Antonella Buoncompagni, Marco Gattorno, Carla Borrone

Research output: Contribution to journalArticlepeer-review

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 ease 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.

Original languageEnglish
Pages (from-to)1-4
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume73
Issue number1
DOIs
Publication statusPublished - Nov 28 1997

Keywords

  • Deafness
  • Eyelid ptosis
  • Nephronophthisis
  • Partial hypopituitarism
  • Retinitis pigmentosa
  • Skeletal dysplasia

ASJC Scopus subject areas

  • Genetics(clinical)

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