An autosomal dominant form of arthrogryposis multiplex congenita (AMC) with unusual dermatoglyphics

AMC is characterized by congenital fixation of multiple joints. The authors report a father and daughter with similar clinical and dermatoglyphic findings suggesting autosomal dominant inheritance. The father (39 years old) was born with absent flexion creases of fingers with limited flexion of all joints of upper limbs and neck. Talipes equinovarus was corrected by bilateral triple arthrodeses and later Achilles tendon extensions. He is now short with scoliosis and 4 symmetric dimples over posterior ilia. There is generalized limitation of gaze, especially upward, and atrophy of muscles of legs below knees. Intelligence is normal. His 2-year-old daughter was born with flexion of hands, arms, and knees, dislocated hips, and bilateral talipes equinovarus. She is small, the neck is short with limited movement; no scoliosis; limited extension in all joints of upper limbs, hips, and knees; fixed equinovarus of ankles; bilateral dimples over sacrum; moderate generalized weakness of muscles, more prominent in lower limbs. Both have normal nerve conduction velocities, muscle enzymes, histologic findings on muscle biopsy and karyotypes. There are no other affected family members. The mother is normal. Dermatoglyphic findings were abnormal and included, in the fingers: high frequency of large size whorls with 3 triradii; high total ridge-count and pattern intensity; vertical orientation of ridges; accessory triradii over proximal phalanges and absence of most flexion creases. In the hands it included: lack of sharp delineation between fingers and palm with extra basal triradii; abnormal position of the axial triradii; simian crease; and complete reverse main line orientation, most of the lines ending in the radial side of the palm (daughter only). Information about dermatoglyphics in this syndrome is scarce because the flexion contractures of the fingers make the ridges difficult to interpret. The most frequent finding has been longitudinal alignment of the palmar ridges with main A lines ending in palmar areas 1 and 2. Bilateral, complete, or transitional simian creases and distal axial triradii with patterns on the hypothenar area also have been noted. Some of the clinical features in both patients may be explained as developmental anomalies due to the abnormal structure of the hands. However, others probably reflect an abnormal genotype. The unusual dermatoglyphics support the possibility that this represents a new syndrome of AMC.