A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: coincidental findings or a new entity?
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.
Kargi
A E
AE
Department of Plastic and Reconstructive Surgery, Ankara Numune Community Hospital, Turkey.
Balci
S
S
Aköz
T
T
Kargi
S
S
Erdoğan
B
B
D002648:Child; D006801:Humans; D008297:Male; D011625:Pterygium / Q000175:diagnosis*; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis*; D013577:Syndrome