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"Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hyperplasia of the 3rd finger--Ailesel patent duktus arteriyozus: Char sendromu ve yeni bir bulgusu; 3.
"Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hyperplasia of the 3rd finger-Ailesel patent duktus arteriyozus: Char sendromu ve yeni bir bulgusu; 3.
Char syndrome is an autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and abnormalities of the fifth finger of the hand (1).
Char syndrome has subsequently been reported by several investigators (4-7).
The triad of Char syndrome has been variable in all families reported to date.
Although rare, Char syndrome should be part of the differential diagnosis for patients with a family history of PDA, dysmorphic features, hand/foot anomalies and also polythelia.
Novel TFAP2B mutations that cause Char syndrome provide a genoty-pe-phenotype correlation.
Further delineation of Char syndrome. Pediatr Int 2000; 42: 85-8.
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.