Pfeiffer syndrome type 2

case report

Authors

  • Maria Kiyoko Oyamada Hospital do Servidor Público Municipal de São Paulo
  • Haideé Salgado Alonso Ferreira Hospital do Servidor Público Municipal de São Paulo
  • Marcelo Hoff Hospital do Servidor Público Municipal de São Paulo

Keywords:

Pfeiffer syndrome, Cloverleaf skull, Craniosynostosis, Syndactyly, Upper airway, Eye

Abstract

OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.

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Author Biographies

Maria Kiyoko Oyamada, Hospital do Servidor Público Municipal de São Paulo

Attending Doctor, Ophthalmology Clinic, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Haideé Salgado Alonso Ferreira, Hospital do Servidor Público Municipal de São Paulo

Doctor, Neonatology Clinic, Hospital do Servidor Público Municipal de São Paulo, São Paulo, Brazil.

Marcelo Hoff, Hospital do Servidor Público Municipal de São Paulo

Third-year resident doctor, Neonatology Clinic, Hospital do Servidor Público Municipal de São Paulo, São Paulo, Brazil.

References

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Rutland P, Pulleyn LJ, Reardon W, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 1995;9(2):173-6.

Passos-Bueno MR, Sertie AL, Richieri-Costa A, et al. Descrip- tion of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. Am J Med Genet 1998;78(3):237-41.

Okajima K, Robinson LK, Hart MA, et al. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. Am J Med Genet 1999;85(2):160-70.

Glaser RL, Jiang W, Boyadjiev SA, et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 2000; 66(3):768-77.

Benacerraf BR, Spiro R, Mitchell AG. Using three-di- mensional ultrasound to detect craniosynostosis in a fe- tus with Pfeiffer syndrome. Ultrasound Obstet Gynecol 2000;16(4):391-4.

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Published

2003-07-07

How to Cite

1.
Oyamada MK, Ferreira HSA, Hoff M. Pfeiffer syndrome type 2: case report. Sao Paulo Med J [Internet]. 2003 Jul. 7 [cited 2025 Mar. 18];121(4):176-9. Available from: https://periodicosapm.emnuvens.com.br/spmj/article/view/2632

Issue

Section

Case Report