CONGENITAL DYSPLASTIC HIPS, SPINAL COLUMN ABNORMALITIES, FRACTURES AND PROGRESSIVE NEUROLOGICAL MANIFESTATIONS IN TUNISIAN FAMILY WITH COCKAYNE SYNDROME

We report an inbred, Tunisian family in which cousins have the definite diagnosis of Cockayne syndrome. Intervening members in this family, who are intellectually normal, though, most are manifesting complications of hip dysplasia (development of dysplastic arthrosis) and various vertebral abnormalities. We presume that these are carriers who manifest dreadful bone features rather than the clinical phenotype of Cockayne syndrome, the mode of inheritance of the abnormal gene in this family is suggesting autosomal dominant, to our knowledge the family reported with such skeletal abnormalities in association to Cockayne syndrome is the largest in comparison to the international literatures.