Rare Diseases Symptoms Automatic Extraction

[Cohen syndrome. Personal case report and literature review].

[cohen syndrome]

We report the case of a fourteen years six months old girl with features of the Cohen-syndrome. The patient shows all main symptoms of this entity: characteristic craniofacial appearance, truncal obesity, mental retardation, microcephaly, short stature and limb anomalies.

Diseases presenting "craniofacial appearance" symptom

  • achondroplasia
  • cohen syndrome

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