Rare Diseases Symptoms Automatic Extraction

The Cohen syndrome: report of a case.

[cohen syndrome]

We report on a sporadic case satisfied with a proposed diagnostic criteria for Cohen syndrome. This 10 year-old Japanese boy had truncal obesity, short stature, mild mental retardation, hypotonia, maxillary hypoplasia, micrognathia, narrow hands and feet, high-arched palate, prominent upper central incisors, high nasal bridge, but no pigmentary retinopathy. Autosomal recessive manner of inheritance was suggested by the pedigree.

Diseases presenting "proposed diagnostic criteria for cohen syndrome" symptom

  • cohen syndrome

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