Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa

Megarbane et al. (2006) reported a consanguineous Lebanese family in which 2 cousins had severe scoliosis with multiple other skeletal anomalies and retinitis pigmentosa. Both individuals had postnatal short stature, short neck, rhizomelic shortening of the limbs, particularly the upper limbs. and strabismus. Radiographic findings included short humeri, prominent deltoid tuberosities of the humeri, short and wide ribs and clavicles, biconcave vertebral bodies of the thoracolumbar spine, and narrowed lumbar canal. One patient had amelogenesis imperfecta. There was no bone age delay, and intelligence was normal. Megarbane et al. (2006) distinguished the disorder in this family from other syndromes with skeletal dysplasia and eye abnormalities.