Abstract

28 cases of Taybi-Rubinstein syndrome with different radiological appearances are presented along with radiological differential diagnosis. Broadening of the distal phalanx of the thumb (68%) and great toe (64%) was the most common radiological sign followed by incomplete fissures of the distal phalanges of the thumb and first toes. Radiological examination in association with clinical signs and laboratory investigations is an essential part in the diagnosis of the Taybi-Rubinstein syndrome.

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