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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… (More)
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… (More)
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… (More)