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Related Experiment Videos

The Coffin-Siris syndrome.

Q H Qazi1, L S Heckman, D Markouizos

  • 1State University of New York Health Science Center at Brooklyn.

Journal of Medical Genetics
|May 1, 1990
PubMed
Summary
This summary is machine-generated.

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This case report details a white female infant diagnosed with Coffin-Siris syndrome. The infant presented with characteristic physical features and developmental challenges, highlighting the syndrome

Area of Science:

  • Genetics and Developmental Pediatrics
  • Rare Genetic Disorders

Background:

  • Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by intellectual disability and distinct facial and limb anomalies.
  • Early identification and understanding of CSS are crucial for timely intervention and management.

Observation:

  • A white female infant exhibited classic Coffin-Siris syndrome features.
  • Clinical manifestations included facial dysmorphia (thick eyebrows, flat nasal bridge, anteverted wide nose tip), generalized hypertrichosis, scalp hypotrichosis, and limb abnormalities (absent fifth nails/phalanges, absent distal phalanges of toes).
  • Additional findings included small patellae, inguinal hernia, feeding difficulties, decreased fetal activity, and intrauterine growth retardation.

Findings:

  • The infant presented with a comprehensive set of typical Coffin-Siris syndrome phenotypic features.

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  • The presence of decreased fetal activity and intrauterine growth retardation suggests potential prenatal impact of the syndrome.

    • Implications:

    • This case reinforces the diagnostic criteria for Coffin-Siris syndrome and highlights the importance of recognizing its diverse clinical spectrum.
    • Understanding these features aids in genetic counseling and the development of supportive care strategies for affected individuals and families.