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  1. Multiple Synostoses Syndrome 1
  2. Harrod Doman Keele Syndrome
  3. Merlob Syndrome
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  6. Beta Ketothiolase Deficiency
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  8. Winkelman Bethge Pfeiffer Syndrome
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Brachytelephalangy characteristic facies Kallmann

  1. Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.
  2. Characteristic craniofacial appearance and brachytelephalangy in a mother and son with Kallman syndrome in the son.