title: A case of symbrachydactyly with oligodactyly.
abstract: 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 has always been observed unilaterally and sporadically. A familial type of this 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 discovered other forms of symbrachydactyly. A three month old child was brought to the Istanbul University Genetic Research Center because of his abnormal hands and feet. He was the second child of a couple who had no kinship ties to each other. In the history of the family, there was no mention of any anomaly as such. There was a complete syndactyly involving the 3rd through the 5th fingers, partial syndactyly between the 2nd and 3rd, and the thumb 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 oligodactyly and absence of the big toe. The left foot had five toes with a complete syndactyly between the 2nd and the 3rd. Radiological observation indicated that the middle phalanges of both extremities were rudimentary or never developed. There was no osseous syndactyly. As observed in this case, oligodactylous type that is bilateral and involves both hands and feet together is very unusual. The purpose of this study is to present a rare case of this anomaly that requires a reassessment of symbrachydactyly and its traditional classifications.
authors.affiliation: Department of Genetics and Teratology Research Center (GETAM), Cerrahpasa Medical Faculty, Istanbul University, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Seven
authors.forename: A
authors.initials: A
authors.lastname: Yuksel
authors.forename: A
authors.initials: A
authors.lastname: Ozkilic
mesh_terms: D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D013576:Syndactyly / Q000145:classification / Q000000981:diagnostic imaging / Q000473:pathology*; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging