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Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan

Hiroshi Koga1, Naohiro Suga, Takato Nakamoto

  • 1Department of Pediatrics, National Hospital Organization Beppu Medical Center, Oita, Japan. sakuraliberty@beppu2.hosp.go.jp

American Journal of Medical Genetics. Part A
|September 12, 2012
PubMed

Insights

Pfeiffer syndrome (PS) is a rare craniosynostosis. Elbow ankylosis and sacrococcygeal defects are key early diagnostic signs in newborns with PS, aiding prompt medical intervention.

Area of Science:

  • Medical Genetics
  • Pediatric Surgery
  • Clinical Dysmorphology

Background:

  • Pfeiffer syndrome (PS) is a rare craniosynostosis syndrome with significant morbidity.
  • Early diagnosis of PS is challenging due to low awareness and rarity.
  • Severe PS cases necessitate immediate neonatal intensive care.

Purpose of the Study:

  • To identify key phenotypic features for early diagnosis of Pfeiffer syndrome (PS) types 2 and 3.
  • To improve diagnostic accuracy and timeliness in newborns presenting with craniosynostosis.

Main Methods:

  • Retrospective review of 23 Japanese patients with Pfeiffer syndrome types 2 or 3 (1980-2011).
  • Extraction and analysis of clinical and genetic data from medical records.
  • Identification of characteristic phenotypic manifestations and their prevalence.

Main Results:

  • All 23 patients exhibited craniosynostosis, midface hypoplasia, proptosis, broad thumbs, and wide great toes.
  • FGFR2 mutations were confirmed in 8/8 genetically analyzed patients.
  • Elbow ankylosis (70%) and sacrococcygeal defects (30%) were significant additional findings.

Conclusions:

  • Elbow ankylosis and sacrococcygeal defects are highly suggestive phenotypic markers for PS in neonates.
  • Recognizing these distinctive features can facilitate earlier diagnosis and management of Pfeiffer syndrome.
  • Despite characteristic symptoms, a significant mortality rate (22%) was observed before one year of age.

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