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Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar)
Spondylocarpotarsal synostosis syndrome (SSS) is characterised by malsegmentation of the thoracic spine and carpal/tarsal fusions. A unilateral or bilateral unsegmented bar may be present in the… Expand
Progressive Congenital Torticollis in VATER Association Syndrome
Study Design. A family study to reach the diagnosis of a multiple malformation syndrome. Objective. To determine the cause of torticollis, in a patient with the VATER association. Summary of… Expand
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… Expand