Dauwerse-Peters Syndrome

Clinical Features

Dauwerse et al. (2007) described a 35-year-old male of Indonesian descent who presented with short stature and infertility due to azoospermia. Facial features were reminiscent of acrodysostosis (101800) and included a flat face with upward slanting palpebral fissures, depressed nasal bridge, broad nasal root, mildly anteverted nostrils, and low-set ears. He had extreme brachydactyly of both hands and to a lesser degree of both feet, and had partial cutaneous syndactyly between the second and third fingers on his right hand. Radiographic examination revealed severe shortening of all tubular bones in both hands, and absence of middle phalanges on the right except for a roundly ossified middle phalanx of the index finger. Both wrists showed hypoplasia of the distal ulna (ulna minor). The feet were short with broad metatarsals and phalanges and there was absence of the middle phalanx of both fifth toes due to distal symphalangism. Spine films showed a lack of interpedicular widening of the lumbar vertebrae, mild scoliosis, indentation of the vertebral endplates, and mild posterior scalloping of the lumbar vertebral bodies. He also had aortic sclerosis and insufficiency.

Cytogenetics

By chromosome analysis in a man with this apparently novel brachydactyly-syndactyly syndrome, Dauwerse et al. (2007) identified a de novo translocation t(4;6)(q12;p23). They found that the MBOAT1 gene (611732) was disrupted by the breakpoint on chromosome 6 and that no genes were disrupted on chromosome 4.