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[The campomelic syndrome (author's transl)].

K J Berndt, R Seiler, R A Pfeiffer

    Monatsschrift Fur Kinderheilkunde
    |February 1, 1976
    PubMed
    Summary

    This case report details a male infant with campomelic syndrome, characterized by skeletal abnormalities and facial differences. The infant tragically died from asphyxia, highlighting the severe and often fatal nature of this genetic disorder.

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    Area of Science:

    • Pediatric Genetics
    • Skeletal Dysplasias
    • Neonatal Medicine

    Background:

    • Campomelic dysplasia is a rare skeletal dysplasia characterized by significant limb bowing and other congenital anomalies.
    • Early diagnosis and understanding of associated complications are crucial for management and genetic counseling.

    Observation:

    • A male infant presented with typical features of campomelic syndrome, including characteristic facies and bowing of the long bones.
    • Skeletal deformities, cleft palate, coarctation of the aorta, and probable fibular aplasia were noted.

    Findings:

    • The infant experienced asphyxia on the second day of life, leading to a fatal outcome.
    • The constellation of findings underscores the multi-systemic impact of campomelic syndrome.

    Implications:

    • This case highlights the critical need for comprehensive evaluation of neonates with suspected campomelic dysplasia.
    • Understanding the spectrum of anomalies associated with campomelic syndrome is vital for prognosis and family support.

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