A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia

摘要

Split hand and foot malformations (SHFMs) are found in a large heterogeneous group of disorders, resulting from maldevelopment of the central rays of the limb buds, and are reported to occur in one in 10000 to 90000 live births. They can occur as an isolated defect or as a part of a variety of syndromes (Ignatius et al., 1996). Syndromic and isolated SHFM are inherited mostly in an autosomal dominant manner, although X-linked and autosomal recessive forms have been reported (Tackels-Horne et al., 2001). SHFM is associated with six different loci.