[Retinitis pigmentosa, terminal renal insufficiency and Caroli syndrome: new associations with Opitz trigonocephaly syndrome]. / Retinitis pigmentosa, terminale Niereninsuffizienz und Caroli-Syndrom: neue Assoziationen zum Opitz-Trigonocephalie-Syndrom.
Klin Padiatr
; 212(1): 31-4, 2000.
Article
in De
| MEDLINE
| ID: mdl-10719681
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pancreatitis
/
Abnormalities, Multiple
/
Retinitis Pigmentosa
/
Caroli Disease
/
Craniofacial Abnormalities
/
Renal Insufficiency
/
Heart Defects, Congenital
/
Intellectual Disability
Type of study:
Etiology_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Female
/
Humans
Language:
De
Journal:
Klin Padiatr
Year:
2000
Document type:
Article