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Apert syndrome.

N Suparta1, Hartono, Sunartini

  • 1Department of Child Health, Gadjah Mada University, Yogyakarta.

Paediatrica Indonesiana
|November 1, 1991
PubMed
Summary
This summary is machine-generated.

Apert syndrome, a genetic disorder, was diagnosed in a 5-month-old boy presenting with craniosynostosis and limb abnormalities. This case highlights a new mutation as the likely cause in a family with no prior history.

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Area of Science:

  • Medical Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Apert syndrome is a rare genetic disorder characterized by premature fusion of skull sutures (craniosynostosis) and fusion of fingers and toes (syndactyly).
  • It is typically inherited in an autosomal dominant pattern, but spontaneous new mutations can occur.
  • Early diagnosis and management are crucial for improving patient outcomes.

Observation:

  • A 5-month-old male infant presented with clinical features consistent with Apert syndrome, including acrocephaly and syndactyly of hands and feet.
  • Diagnostic confirmation was achieved through skull radiography and ultrasonography.
  • The patient was the third child born to unaffected parents, suggesting a de novo mutation.

Findings:

  • The case report details the diagnosis of Apert syndrome in an infant with no family history of the condition.

Related Experiment Videos

  • Skull roentgenography and ultrasonography supported the clinical diagnosis of craniosynostosis and syndactyly.
  • The absence of affected relatives in the family history points towards a new genetic mutation causing Apert syndrome in this patient.

    • Implications:

    • This case underscores the importance of recognizing the phenotype of Apert syndrome for timely diagnosis.
    • Management involved symptomatic treatment, including acetazolamide for hydrocephalus, vitamin supplementation, and physical therapy.
    • Genetic counseling was provided to the parents regarding the recurrence risk and the nature of de novo mutations.