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. A correction to this article has been issued in Annals of African Medicine, Vol. 4, No. 3, 2005, pp. 141. Please see the full text HTML document for further details.Nous faisons un rapport sur un cas r\ue9sultant de croisements entre animaux de m\ueame souche, une famille tunisiene chez laquelle les cousins avaient un diagnostic pr\ue9cis du syndrome de cockaye. Les membres de cette famille qui interviennent et qui sont sains intellectuellement bien que la plupart des patients manifestaient des complications de la hanche dysplasie (dev\ue9loppement d'arthrose dysplastique) et des anomalies vert\ue9brales. Nous supposons qu'elles sont des porteuses qui manifestent des traits \ue9pouvantables d'os plut\uf4t que le ph\ue9notype clinique de syndrone de cockaye, la m\ue9thode d'h\ue9ritage de ce g\ueane anomalie chez cette famille pourrait \ueatre autosome dominant. Pour autant que nous sachons, la famille s'est pr\ue9sent\ue9e atteinte d'une telle anomalit\ue9 squelettique en association avec le syndrome de cockaye est le plus grand par rapport \ue0 la litt\ue9rature international

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. A correction to this article has been issued in Annals of African Medicine, Vol. 4, No. 3, 2005, pp. 141. Please see the full text HTML document for further details

Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia

We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable clinical expression of the disorder. Keywords: Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears African Health Sciences Vol. 5 (3) 2005: pp. 270-27