Abstract
We report a case with broad, deviated thumb and big, duplicated, deviated toes resembling Rubinstein-Taybi syndrome. But the patient did not have severe mental retardation as in Rubinstein-Taybi syndrome and had no microdeletions on chromosome 16 by FISH-based assay. This patient had mild webbing as seen in multiple pterygium syndrome, but broad-deviated thumb has not been reported in this syndrome. We discuss whether these are coincidental or overlapping findings or whether this is a possible new clinical entity.
How to cite
1.
Kargi AE, Balci S, Aköz T, Kargi S, Erdoğan B. A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: coincidental findings or a new entity?. Turk J Pediatr 2001; 43: 166-171.