TY - JOUR
T1 - Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS)
T2 - A new syndrome?
AU - Di Rocco, Maja
AU - Picco, Paolo
AU - Arslanian, Araxi
AU - Restagno, Gabriella
AU - Perfumo, Francesco
AU - Buoncompagni, Antonella
AU - Gattorno, Marco
AU - Borrone, Carla
PY - 1997/11/28
Y1 - 1997/11/28
N2 - 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.
AB - 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.
KW - Deafness
KW - Eyelid ptosis
KW - Nephronophthisis
KW - Partial hypopituitarism
KW - Retinitis pigmentosa
KW - Skeletal dysplasia
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U2 - 10.1002/(SICI)1096-8628(19971128)73:1<1::AID-AJMG1>3.0.CO;2-Y
DO - 10.1002/(SICI)1096-8628(19971128)73:1<1::AID-AJMG1>3.0.CO;2-Y
M3 - Article
C2 - 9375913
AN - SCOPUS:0030697985
VL - 73
SP - 1
EP - 4
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -