Pfeiffer syndrome type 2
case report
Keywords:
Pfeiffer syndrome, Cloverleaf skull, Craniosynostosis, Syndactyly, Upper airway, EyeAbstract
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.
Downloads
References
Pfeiffer RA. Dominant erbliche akrocephalosyndactylie. Z. Kinderheilk 1964;90:301-20.
Cohen MM. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 1993;45(3):300-7.
Kroczek RA, Mühlbauer W, Zimmermann I. Cloverleaf skull associated with Pfeiffer syndrome: pathology and management. Eur J Pediatr 1986;145(5):442-5.
Jabs EW. Toward understanding the pathogenesis of craniosyn- ostosis through clinical and molecular correlates. Clin Genet 1998;53(2):79-86.
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.
