A case of symbrachydactyly with oligodactyly

The term symbrachydactyly describes syndactyly accompanied by brachydactyly : Brachydactyly is seen in middle phalanges of both hands and feet and very short in length or absent. As for syndactyly it is a cutaneous type. It ha s always been observed unilaterally and sporadically, A familial type of th is syndrome has also been reported. There have been many classifications of symbrachydactyly. Of these, Blauth classification is the most favored one. Yet these classifications have been inadequate to include many recently di scovered other forms of symbrachydactyly. A three month old child was broug ht to the Istanbul University Genetic Research Center because of his abnorm al hands and feet. He was the second child of a couple who had no kinship t ies to each other. In the history of the family, there was no mention of an y anomaly as such. There was a complete syndactyly involving the 3rd throug h the 5th fingers, partial syndactyly between the 2nd and 3rd, and the thum b was normal in the right hand. There was only one finger in the left hand. There was total syndactyly in four toes of the right foot with oligodactyl y and absence of the big toe. The left foot had five toes with a complete s yndactyly between the 2nd and the 3rd. Radiological observation indicated t hat the middle phalanges of both extremities were rudimentary or never deve loped. There was no osseous syndactyly. As observed in this case, oligodact ylous type that is bilateral and involves both hands and feet together is v ery unusual. The purpose of this study is to present a rare case of this an omaly that requires a reassessment of symbrachydactyly and its traditional classifications.