title: Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?
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.
authors.affiliation: Second Division of Pediatrics, Institute for Children G. Gaslini, Genoa, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: P
authors.initials: P
authors.lastname: Picco
authors.forename: A
authors.initials: A
authors.lastname: Arslanian
authors.forename: G
authors.initials: G
authors.lastname: Restagno
authors.forename: F
authors.initials: F
authors.lastname: Perfumo
authors.forename: A
authors.initials: A
authors.lastname: Buoncompagni
authors.forename: M
authors.initials: M
authors.lastname: Gattorno
authors.forename: C
authors.initials: C
authors.lastname: Borrone
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D000293:Adolescent; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D052177:Kidney Diseases, Cystic / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D013577:Syndrome