Aglossia-adactylia sequence and Moebius syndrome involvement.

Adactylia and limb deficiencies are major congenital malformations can be resulted from a long list of etiological factors, in our department the vast majority of these disorders are genetically determined, and only a small fraction of it proved to be sporadic. We report on a-9-months old male child with Aglossia- Adactylia sequence associated with Moebius syndrome involvement, which in our patient is manifesting itself by left facial nerve and bilateral abducens nerve palsies, total absent of the tongue and absent digits of hands and feet respectively.Key words: Aglossia-adactylia sequence, Moebius syndrome, Hanhart syndrome, facial nerve palsy, and abducens nerve pals

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.Keywords: cockayne syndrome, skeletal abnormalitiesRésuméNous faisons un rapport sur un cas résultant de croisements entre animaux de même souche, une famille tunisiene chez laquelle les cousins avaient un diagnostic précis 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 (devéloppement d\'arthrose dysplastique) et des anomalies vertébrales. Nous supposons qu\'elles sont des porteuses qui manifestent des traits épouvantables d\'os plutôt que le phénotype clinique de syndrone de cockaye, la méthode d\'héritage de ce gêne anomalie chez cette famille pourrait être autosome dominant. Pour autant que nous sachons, la famille s\'est présentée atteinte d\'une telle anomalité squelettique en association avec le syndrome de cockaye est le plus grand par rapport à la littérature internationale.Mots clés: syndrome de cockaye, anomalité squelettiqueAnnals of African Medicine Vol. 4(2) 2005: 83–8

Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome

We report a 15-year-old girl who presented with spinal malsegmentation, associated with other skeletal anomalies. The spinal malsegmentation was subsequently discovered to be part of the spondylocarpotarsal synostosis syndrome. In addition, a distinctive craniocervical malformation was identified, which included atlanto-axial rotatory fixation. The clinical and the radiographic findings are described, and we emphasise the importance of computerised tomography to characterize the craniocervical malformation complex. To the best of our knowledge, this is the first clinical report of a child with spondylocarpotarsal synostosis associated with atlanto-axial rotatory fixation