Skeletal Dysplasia, Rhizomelic, With Retinitis Pigmentosa

Megarbane et al. (2004) described what they considered to be a newly recognized autosomal recessive syndrome in a 4-year-old girl, the offspring of healthy first-cousin Lebanese parents. The features were severe pre- and postnatal short stature, low pitched voice, retinitis pigmentosa, photophobia, short neck, broad thorax, platyspondyly, rhizomelic shortening of the long bones, bilateral subluxation of the hips, advanced maturation of the epiphyses, and apparently normal intellectual development. Two subsequent pregnancies had ended in spontaneous abortion with polyhydramnios and severe growth retardation. Another daughter was alive and in good health.