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The Coffin-Siris syndrome: a case report

K Ueda, A Saito, H Nakano

    Helvetica Paediatrica Acta
    |September 1, 1980
    PubMed
    Summary

    This case study details a 5-month-old female with Coffin-Siris syndrome, highlighting key features and successful surgical intervention for congenital heart disease. The patient experienced significant improvements in feeding, respiration, and overall development post-operation.

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    Area of Science:

    • Genetics and Developmental Pediatrics
    • Congenital Malformations
    • Pediatric Cardiology

    Background:

    • Coffin-Siris syndrome is a rare genetic disorder characterized by distinctive facial features, developmental delays, and physical abnormalities.
    • Early identification and management of associated congenital anomalies are crucial for patient outcomes.

    Observation:

    • A 5-month-old female presented with classic Coffin-Siris syndrome features: growth retardation, microcephaly, hypotonia, and hypoplastic distal phalanges.
    • The patient also exhibited feeding difficulties, respiratory problems, and a ventricular septal defect (VSD).

    Findings:

    • Surgical closure of the VSD was successfully performed at 8.5 months of age.
    • Post-operatively, the infant demonstrated resolution of feeding and respiratory issues.
    • The patient showed well-maintained growth and developmental progress after surgical correction.

    Implications:

    • This case underscores the importance of comprehensive management in Coffin-Siris syndrome, including timely surgical intervention for cardiac defects.
    • Successful VSD repair can significantly improve quality of life and developmental trajectory in affected infants.
    • Further research into the long-term outcomes and multidisciplinary care strategies for Coffin-Siris syndrome is warranted.

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