| Autor: |
Neslihan, Tekin, Sultan, Durmuş-Aydoğdu, Ener Cağri, Dinleyici, Ozcan, Bör, Kismet, Bildirici, Arif, Akşit |
| Rok vydání: |
2005 |
| Předmět: |
|
| Zdroj: |
The Turkish journal of pediatrics. 47(1) |
| ISSN: |
0041-4301 |
| Popis: |
We describe the first family report of ARC syndrome (arthrogryposis multiplex congenita, renal dysfunction, and cholestasis) diagnosed in Turkey. ARC syndrome is a rare cause of cholestatic jaundice and skeletal abnormalities in the neonatal period. Fanconi-like renal tubular dysfunction completed the clinical picture. Consanguinity and affected membership are the other typical components of this rare disorder, and possibility of autosomal recessive transmission was considered. A broad spectrum of histopathological abnormalities have been described in the liver and kidney. In this report, we describe two male siblings with ARC syndrome who had cholestatic jaundice, arthrogryposis multiplex congenital-like joint contractures and renal involvement with additional clinical features. Clinical and pathological aspects of the syndrome are discussed and compared with the other cases in the literature. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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