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Am J Med Genet. 1997 Nov 28;73(1):1-4.

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

Author information

1
Second Division of Pediatrics, Institute for Children G. Gaslini, Genoa, Italy.

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.

PMID:
9375913
[Indexed for MEDLINE]

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