Roldán-Arce J, Villarroel-Cortés C

Language: Spanish
References: 29
Page: 43-47
PDF size: 224.85 Kb.

ABSTRACT

Pfeiffer syndrome is a rare autosomal dominant disease that affects almost 1 out of every 100,000 live newborns, and it is associated with craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly in hands and feet. Three types of this syndrome have been described based on the presence of other abnormalities and the severity of the condition. “Classic” type 1 consists of mild severity with normal to near-normal intelligence and generally a good prognosis. Type 2 is characterized by a cloverleaf skull, severe proptosis, elbow ankylosis or synostosis, growth retardation and life-threatening neurological and respiratory complications. Type 3 is similar to type 2 but without the cloverleaf cranium. This syndrome is genetically heterogeneous, it is caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Occasionally Pfeiffer syndrome can be diagnosed prenatally by sonography or molecularly if the causative mutation is known. Management must be multidisciplinary and it includes multiple-staged surgery. In this report we present the clinical and radiographic findings in female newborn, whose clinical features were consistent with Pfeiffer syndrome type 2. A brief updated review of the literature is included.

REFERENCES

1. Pfeiffer RA. Dominant hereditary acrocephalosyndactylia. Z Kinderheilkd 1964;90:301-20.

2. Cohen MM. Pfeiffer syndrome update, clinical subtypes and guidelines for differential diagnosis. Am J Med Genet 1993;45:300-7.

3. Freihofer HP. Syndrome 2; Pfeiffer syndrome. Ned Tijdschr Tandheelkd 1998;105:245-6.

4. Soekarman D, Fryns JP, Van den Berghe H. Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child. Genet Couns 1992;3:217-20.

5. Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, WQalsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 2000;66:768-77.

6. Kroczek RA, Mühlbauer W, Zimmermann I. Cloverleaf skull associated with Pfeiffer syndrome: pathology and management. Eur J Pediatr 1986;145:442-5.

7. Moore MH, Cantrell SB, Trott JA, David DJ. Pfeiffer syndrome: A clinical review. Cleft Palate Craniofac J 1995;32:62-70.

8. McCarthy JG, Glasberg SB, Cutting CB, Epstein FJ, Grayson BH, Ruff G, Thorne CH, Wisoff J, Zide BM. Twenty-year experience with early surgery for craniosynostosis: II. The craniofacial synostosis syndromes and pansynostosis - results and unsolved problems. Plas Recon Surg 1995;96:284-98.

9. Hockstein NG, McDonald-McGinn D, Zackai E, Bartlett S, Huff DS, Jacobs I. Tracheal anomalies in Pfeiffer syndrome. Arch Otolaryngol Head Neck Surg 2004;130:1298-302.

10. Stone P, Trevenen CL, Mitchell I, Rudd N. Congenital tracheal stenosis in Pfeiffer syndrome. Clin Genet 1990;38:145-8.

11. Gonzales S, Heuertz J, Martinovic S, Delahaye S, Bazin A, Loget P, Pasquier L, Le Merrer M, Bonaventure J. Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. Clin Genet 2005;68:179-81.

12. Vallino-Napoli LD. Audiologic and otologic characteristics of Pfeiffer syndrome. Cleft Palate Craniofac J 1996;33:524-9.

13. Harb E, Kran B. Pfeiffer syndrome: systemic and ocular implications. Optometry 2005;76:352-62.

14. Muenke M, Schell V, Hehr A. A common mutation in the fibroblast growth factor receptor I gene in Pfeiffer syndrome. Nat Genet 1994;90:301-20.

15. Plomp AS, Hamel BC, Cobben JM, Verlos A, Offermans JP, Lajeunie E, Fryns JP, de Die-Smulders CE. Pfeiffer syndrome type 2: further delineation and review of the literature. Am J Med Genet 1998;75:245-51.

16. Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis 2006;1:19.

17. Kiyoko M, Salgado H, Hoff M. Pfeiffer syndrome type 2 – case report. Sao Paulo Med J 2003;121:176-9.

18. Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW. Ocular anterior chamber disgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. Am J Med Genet 1999;85:160-70.

19. Goriely A, McVean GA, Rojmyr M, Ingemarsson B, Wilkie AO. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 2003;301:643-46.

20. Benacerraf BR, Spiro R, Mitchell AG. Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome. Ultrasound Obstet Gynecol 2000;16:391-4.

21. Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, Nazzaro G, De Placido G, Scarano G. Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature. Prenat Diagn 2004;24:918-22.

22. Blaumeiser B, Loquet P, Wuyts W, Nöthen MM. Prenatal diagnosis of Pfeiffer syndrome type 2. Prenat Diagn 2004;24:644-6.

23. Wilkie AO, Oldridge M, Tang Z, Maxson RE. Craniosynostosis and related limb anomalies. Novartis Found Symp 2001;232:122-33.

24. Passos-Bueno MR, Sertie AL, Zatz M, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? Am J Med Genet 1997;71:243-5.

25. Rutland P, Pulleyn LJ, Reardon W, Baraister M, Hayward R, Jones B, Malcom S, Winter RM, Oldridge M, Slaney Sf, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet 1995;9:173-6.

26. Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C. A splicing switch and gain-of-function mutation in FGFR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. Proc Natl Acad Sci USA 2001;98:3855-60.

27. Echeverri D, Pachajoa H, Saldarriaga W, Isaza C. Síndromes de Apert y Pfeiffer 2: una aproximación diagnóstica. Rev Ecuatoriana Neurología 2008;17:94-6.

28. Gomez L, Morales A, Salomón J, Berttolini AJ, Toledo E, Cornelio RM. Síndrome de Pfeiffer tipo 2 con expresividad variable. Bol Med Hosp Infant Mex 2004;61:68-72.

29. Robin NH, Scott JA, Arnold JE, Goldstein JA, Shilling BB, Barion RW, Cohen MM. Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification. Am J Med Genet 1998;75:240-4.