Brazilian Journal of Biological Sciences (ISSN 2358-2731)

Home Archive v. 3, no. 5 (2016) Ganji-Harsini


Vol. 3, No. 5, p. 227-230 - Jun. 30, 2016


Withdrawn: Rubenstein-Taybi Syndrome with bilateral absence of patella: a case report

Sedigheh Ganji-Harsini , Sepide Seydi , Ali Ghanbari , Mostafa Sedighi , Mazyar Khazali and Mahsa Falahi

Rubinstein-Taybi Syndrome (RTS) is a neuromuscular syndrome which is mainly characterized by a delay in growth, psychomotor retardation, duplication of the distal phalanx of the thumbs, typical facial dimorphism. Absence of patella that causes difficulties in walking is extremely rare and occurs usually with other signs of a syndrome. Bilateral absence of patella was seen during clinical examination of a case suffered to Rubinstein-Taybi Syndrome. The case was a six-year-old full term born boy, with deformed knees since birth admitted to Farabi Hospital, Kermanshah, Iran, at September 2015. The physical signs were similar to the previously reported cases, except the absence of patella.

Case report; Rubinstein-Taybi Syndrome; Patella, Iran.


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