Mental Retardation, Skeletal Dysplasia, And Abducens Palsy

In 4 male first cousins in 3 sibships connected through females, Christian et al. (1977) observed skeletal dysplasia, mental retardation, and abducens palsy. The skeletal abnormalities included short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, and short middle phalanges. Three had glucose intolerance and one was born with imperforate anus. Of 5 obligate female carriers studied, 3 had fusion of cervical vertebrae, 3 had short middle phalanges, and 3 had glucose intolerance. The illustrations of affected males showed broad nasal bridge. Compare 305450, 307500, 309580. Studies by Dlouhy et al. (1987) indicated that the mutation is located in Xq28-qter, linked to DXS52 and DXS15 (maximum lod scores at theta = 0 of 3.27 and 3.06, respectively). Both DXS52 and DXS15 map to Xq28.