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Smith-Theiler-Schachenmann syndrome (David W. Smith)

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A developmental disorder affecting both sexes, characterized by severe costovertebral malformations, mental deficiency; and orofacial defects, short hand palate with a central hole, absent soft palate, absent uvula, and glossoptosis.

Description

A developmental disorder affecting both sexes, characterized by severe costovertebral malformations (segmentation of the ribs and fusion of their dorsal ends to the vertebral bodies with a bell-shaped thorax), mental deficiency; and orofacial defects, mainly micrognathia, short hand palate with a central hole, absent soft palate, absent uvula, and glossoptosis. In one case, elbow hypoplasia, defect sacrum and coccyx. In another, webbing of the neck and area of skin redundance. Neonatal respiratory distress and barking cough are frequently observed. Evident from birth. Inheritance is autosomal recessive.

Bibliography

  • D. W. Smith, K. Theiler, G. Schachenmann:
    Rib-gap defect with micrognathia, malformed tracheal cartilage and redundant skin: A new pattern of defective development.
    Journal of Pediatrics, St. Louis, 1966, 69: 799-803.

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