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[On Apert syndrome. A case report]

A Vescuso1, F Cicale, A De Martino

  • 1Divisione di Neonatologia, Ospedale Loreto Mare, Napoli.

Minerva Pediatrica
|June 1, 1993
PubMed
Summary
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Apert syndrome, a rare genetic disorder, was observed in a healthy newborn. This case highlights the condition

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Clinical Case Reports

Background:

  • Apert syndrome is a rare genetic disorder characterized by premature fusion of skull bones (craniosynostosis) and distinctive facial features.
  • It is typically associated with mutations in the FGFR2 gene, but the exact etiology can be complex.
  • Understanding the phenotypic spectrum and genetic underpinnings is crucial for diagnosis and management.

Observation:

  • A case report of a newborn diagnosed with Apert syndrome is presented.
  • The infant's mother was young and healthy, and paternal age was not a determining factor.
  • No chromosomal anomalies were detected in the affected infant.

Findings:

  • The observed case of Apert syndrome presented without identifiable chromosomal abnormalities or clear links to parental age.

Related Experiment Videos

  • This highlights that genetic factors beyond simple chromosomal aneuploidies or advanced parental age can contribute to Apert syndrome.
  • The specific malformations observed in the newborn are detailed.

    • Implications:

    • This case contributes to the global registry of Apert syndrome cases, aiding in understanding its variability.
    • Further research into the genetic and environmental factors influencing Apert syndrome is warranted.
    • Increased awareness and documentation of such cases can improve early diagnosis and intervention strategies.