Clinical Features
All 22 individuals studied had partial or complete webbing of the soft tissue between their fingers and toes. In 13 of the individuals the most lateral 3 or 4 toes were flexed at the interphalangeals joints. According to Dundar and coworkers, 8 of the 22 individuals had “pre axial polydactyly in the hands (unilateral in two, bilateral in six), ranging in severity from broad or bifid distal phalanges in the thumbs to duplication of an entire biphalangeal or triphalangeal thumb, in two cases with an associated extra metacarpal, lying in a soft tissue web between the thumb and index finger. Fourteen had preaxial polydactyly in the feet (unilateral in one, bilateral in 13), consisting of a small extra biphalangeal toe, in most cases with an associated rudimentary extra metatarsal, lying in a soft tissue web between the hallux and second toe. In some cases, this was accompanied by hypoplasia of the head of the first metatarsal and absence of both phalanges of the hallux. In addition, 14 had a sternal abnormality, consisting of a pectus carinatum deformity of the upper sternum and/or a pectus excavatum deformity of the lower sternum, producing a blind ending, inverted U shaped sinus in the anterior chest wall. A thoracic CT scan of V.38, who was typically affected, showed an increase in the anterior-posterior diameter of the upper chest, with no underlying bony defect in the sternum. There were no other skeletal or extraskeletal abnormalities”.
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