[Retinitis pigmentosa, terminal renal insufficiency and Caroli syndrome: new associations with Opitz trigonocephaly syndrome].
We report on a new patient with Opitz trigonocephaly syndrome. In addition to the findings typical of this mental retardation syndrome, the present patient has retinitis pigmentosa, Caroli's syndrome and renal failure, which is undergoing hemodialysis. This association is never observed before in patients with Opitz trigonocephaly syndrome. This case demonstrate, that with increased survival of patients with mental retardation syndromes, the phenotypes possible are modified.
Weber
P
P
Universitätskinderspital Basel.
Kuwertz-Bröking
E
E
Majewski
F
F
Zimmer
K P
KP
Bulla
M
M
D000015:Abnormalities, Multiple / Q000209:etiology*; D000293:Adolescent; D016767:Caroli Disease / Q000175:diagnosis*; D002404:Catheterization / Q000009:adverse effects; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D007621:Karyotyping; D010195:Pancreatitis / Q000175:diagnosis*; D012008:Recurrence; D051437:Renal Insufficiency / Q000175:diagnosis*; D012174:Retinitis Pigmentosa / Q000175:diagnosis*; D018805:Sepsis / Q000209:etiology; D013577:Syndrome