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Editor—An adducted thumb-club foot syndrome was originally reported by Dundar et al 1 in 1997 (MIM 601776).2 The patients presented with facial dysmorphism comprising a broad and bossed forehead, widely patent anterior fontanelle, telecanthus, downward slanting palpebral fissures, deep set ears, arachnodactyly, severely adducted thumbs, and club feet. Dundar et al 1 discussed several known conditions featuring adducted thumbs, such as the Freeman-Sheldon syndrome (MIM 193700 and 277720), multiple pterygium syndrome (MIM 265000), congenital contractural arachnodactyly (MIM 121050), the Christian adducted thumb syndrome (201550), and the MASA syndrome/X linked hydrocephalus (MIM 307000). They considered the combination of adducted thumbs, club foot, arachnodactyly, and distinct facial dysmorphism present in their patients to constitute a “new” syndrome. The occurrence of this striking phenotype in male and female cousins, the offspring of consanguineous Turkish parents, indicated autosomal recessive inheritance to them. Very recently, two sibs of healthy Japanese parents with a previously unrecognised combination of distal arthrogryposis with other congenital anomalies were reported by Sonoda and Kouno.3 The parents of these patients were first cousins once removed. However, although there are striking similarities between their patients, the authors did not refer to the report of Dundar et al.1 We report two male sibs with the same condition, the product of a fourth cousin marriage of an Austrian family. We are tempted to identify the same dysmorphogenetic syndrome in all three families, thereby confirming the existence of a distinguishable syndrome. Autosomal recessive inheritance of the condition is suggested by parental consanguinity in the three kindreds.
Patient 1, a boy, was delivered at 32 weeks of gestation and died shortly after birth from respiratory failure. Birth weight was 1250 g (10th centile), body length was 40 cm (25th centile), and head circumference was 28.5 cm (25th centile). The infant …