Rare Diseases Symptoms Automatic Extraction

Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome.

[wolf-hirschhorn syndrome]

Wolf-Hirschhorn syndrome is a well-known clinical entity caused by a terminal deletion of the short arm of chromosome 4 (4p-). The diagnosis is usually made in childhood because of the pathognomonic facial dysmorphism, multi-organ involvement and seizures. Epilepsy is a major medical complication during the first years of life, with seizures typically being frequent, although they tend to improve or cease with age. We report on a woman diagnosed with WHS in her thirties by array-CGH. She presents with milder dysmorphic features, recognized by stereophotogrammetry and seizures persistent in adulthood.

Diseases presenting "short arm" symptom

  • cystinuria
  • kindler syndrome
  • monosomy 21
  • pyruvate dehydrogenase deficiency
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome

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