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[The Cohen syndrome]

M Dumić1, J Ille, M Cvitković

  • 1Zavod za endokrinologiju i dijabetes Klinike za pedijatriju Medicinskog fakulteta i Klinickog bolnickog centra Rebro u Zagrebu.

Lijecnicki Vjesnik
|September 1, 1996
PubMed
Summary
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A girl diagnosed with Cohen syndrome presents with characteristic facial and extremity features, obesity, hypotonia, and cognitive impairment. Despite challenges, including unsuccessful weight reduction attempts, this case highlights key diagnostic markers for this rare genetic disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Cohen syndrome is a rare autosomal recessive disorder.
  • Characterized by a distinct facial appearance, developmental delay, and hypotonia.
  • Often associated with obesity and visual disturbances.

Observation:

  • A pediatric case presenting with classic Cohen syndrome features.
  • Includes hypoplastic maxilla and mandible, open mouth, prominent incisors, and narrow extremities.
  • Observed childhood obesity, hypotonia, mental insufficiency, and "mottled retina".

Findings:

  • The presented case aligns with the established diagnostic criteria for Cohen syndrome.
  • The combination of physical, developmental, and ocular findings confirms the diagnosis.

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  • Difficulty in managing childhood obesity is noted.

    • Implications:

    • Accurate diagnosis of Cohen syndrome is crucial for appropriate management and genetic counseling.
    • Understanding the phenotype aids in early identification and intervention.
    • Further research into effective weight management strategies for individuals with Cohen syndrome is warranted.