Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?
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.
Di Rocco
M
M
Second Division of Pediatrics, Institute for Children G. Gaslini, Genoa, Italy.
Picco
P
P
Arslanian
A
A
Restagno
G
G
Perfumo
F
F
Buoncompagni
A
A
Gattorno
M
M
Borrone
C
C
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