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Severe neonatal myotonic dystrophy

This full-term newborn boy’s mother has the more usual later onset form of the disease. The boy has the characteristic facial diplegia with an inverted V-shaped upper lip, generalized hypotonia and weakness, and multiple joint contractures involving ankles, hips, and interphalangeal joints of the fingers. (Reproduced with permission from: Sarnat HB, O’Connor T, Byrne PA. Clinical effects of myotonic dystrophy on pregnancy and the neonate. Arch Neurol 1976;33:459-65. Copyrighted 1976, American Medical Assoc.)

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Associated Disorders

  • Steinert disease, neonatal form
  • congenital myopathies
  • myotonic disorders