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Pfeiffer Syndrome type 2--case report.

Maria Kiyoko Oyamada1, Haide Salgado Alonso Ferreira, Marcelo Hoff

  • 1Hospital de Servidor Público Municipal de São Paulo, Brazil. kiyoko.ops@terra.com.br

Sao Paulo Medical Journal = Revista Paulista De Medicina
|November 5, 2003
PubMed
Summary

Pfeiffer Syndrome is a genetic disorder causing craniosynostosis. This case highlights Type 2, emphasizing the poor prognosis and need for early intervention in managing this rare condition.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Case Reports

Background:

  • Pfeiffer Syndrome is an autosomal dominant osteochondrodysplasia characterized by craniosynostosis.
  • The disorder presents with significant clinical variability, classified into three types.
  • Understanding the distinct features of each type is crucial for diagnosis and management.

Observation:

  • A newborn presented with a cloverleaf skull, extreme bilateral exorbitism, and choanal atresia.
  • Additional findings included partial syndactyly of the second and third toes and broad, medially-deviated big toes.
  • This specific presentation was consistent with Pfeiffer Syndrome type 2.

Findings:

  • Pfeiffer Syndrome type 2 is associated with a generally poor prognosis and severe neurological compromise.

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  • Types 2 and 3 often have sporadic occurrence and a high likelihood of early mortality.
  • Type 1 typically presents with normal intelligence and a more favorable outcome.

    • Implications:

    • Early and aggressive medical and surgical management may improve survival outcomes in some cases.
    • Accurate differential diagnosis is essential for appropriate patient care and genetic counseling.
    • Further research into managing severe presentations of Pfeiffer Syndrome is warranted.