Pfeiffer syndrome type 2: Further delineation and review of the literature

American Journal of Medical Genetics

Volumn 75, Issue 3, 1998, Pages 245-251

  Plomp, Astrid S ^a   Hamel, Ben C J ^b   Cobben, Jan M ^c   Verloes, Alain ^d   Offermans, Jos P M ^a   Lajeunie, Elisabeth ^f   Fryns, Jean Pierre ^e   De Die Smulders, Christine E M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d UNIVERSITY OF LIÈGE   (Belgium)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Cloverleaf skull; Fibroblast growth factor receptor; Pfeiffer syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; ANKYLOSIS; ARTICLE; BRAIN MALFORMATION; CLINICAL ARTICLE; CLINICAL FEATURE; CROUZON SYNDROME; DNA DETERMINATION; EXOPHTHALMOS; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MALFORMATION SYNDROME; NEWBORN; POSTOPERATIVE COMPLICATION; PREMATURITY; PRIORITY JOURNAL; PROGNOSIS; THUMB MALFORMATION;

ABNORMALITIES, MULTIPLE; ACROCEPHALOSYNDACTYLIA; CHILD, PRESCHOOL; FEMALE; FETAL DEATH; FIBROBLAST GROWTH FACTORS; HUMANS; INFANT, NEWBORN; MALE; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0032559241     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980123)75:3<245::AID-AJMG3>3.0.CO;2-P     Document Type: Article

References (35)

1. Angle CR, McIntire MS, Moore RC (1967): Cloverleaf skull: Kleeblattschädel-deformity syndrome. Am J Dis Child 114:198-202.
2. Asnes RS, Morehead CD (1969): Pfeiffer syndrome. BD:OAS V(3):198-203.
3. Baraitser M, Bowen-Bravery M, Saldaña-Garcia P (1980): Pitfalls of genetic counselling in Pfeiffer's syndrome. J Med Genet 17:250-256.
4. Cohen MM Jr. (1993): Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 45:300-307.
5. Comings DE (1965): The Kleeblattschädel syndrome - a grotesque form of hydrocephalus. J Pediatr 67:126-129.
6. Cremers CWRJ (1981): Hearing loss in Pfeiffer's syndrome. Int J Pediatr Otorhinolaryngol 3:343-353.
7. Dambrain R, Freund M, Verellen G, Pellerin PH, Francke JP, Dhem A (1987): Considerations about the cloverleaf skull. J Craniofac Genet Dev Biol 7:387-401.
8. Davis S, Bove KE, Wells TR, Hartsell B, Weinberg A (1992): Tracheal cartilaginous sleeve. Pediatr Pathol 12:349-364.
9. Eaton AP, Sommer A, Sayers MP (1975): The Kleeblattschädel anomaly. BD:OAS XI(2):238-246.
10. Hodach RJ, Viseskul C, Gilbert EF, Herrmann JPR, Wolfson JJ, Kaveggia EG, Opitz JM (1975): Studies of malformation syndromes in man XXXVI: The Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies. Case report and review. Z Kinderheilk 119:87-103.
11. Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao J, Carnas LR, Jackson CE, Jaye M (1994): Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genet 8:275-279.
12. Kreiborg S, Cohen MM Jr (1993): A severe case of Pfeiffer syndrome associated with stub thumb on the maternal side of the family. J Craniofac Genet Deve Biol 13:73-75.
13. Kroczek RA, Mülbauer W, Zimmermann I (1986): Cloverleaf skull associated with Pfeiffer syndrome: Pathology and management. Eur J Pediatr 145:442-445.
14. Lajeunie E, Wei Ma H, Bonaventure J, Munnich A, le Merrer M, Renier D (1995): FGFR2 mutations in Pfeiffer syndrome. Nature Genet 9:108.
15. Lanteri M, Bonioli E, Ruffa G, Magni LA, Gemme G (1985): Syndrome de Pfeiffer (cas radiologique du mois). Arch Fr Pediatr 42:717-718.
16. Lenz W (1957): Zur Diagnose und Ätiologie der Akrocephalosyndaktylie. Z Kinderheilk 79:546-554.
17. Manns KJ, Bopp KPH (1965): Dysostosis craniofacialis Crouzon mit digitaler Anomalie. Med Min 60:1899-1903.
18. Martsolf JT, Cracco JB, Carpenter GG, O'Hara AE (1971): Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes. Am J Dis Child 121:257-262.
19. Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, Winter RM (1994): A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genet 8:269-274.
20. Noack M (1959): Ein Beigrag zum Krankheitsbild der Akrozephalosyndaktylie (Apert). Arch Kinderheilk 160:168-170.
21. Pfeiffer RA (1964): Dominant erbliche Akrocephalosyndactylie. Z Kinderheilk 90:301-320.
22. Pfeiffer RA (1969): Associated deformities of the head and hands. BD:OAS V(3):18-34.
23. Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow SJ, Cohen MM Jr, Jabs EW (1996): Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nature Genet 13:492-494.
24. Rasmussen SA, Frias JL (1988): Mild expression of the Pfeiffer syndrome. Clin Genet 33:5-10.
25. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S (1994): Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet 8:98-103.
26. Robin NH, Feldman GJ, Mitchell HF, Lorentz P, Wilroy RS, Zackai EH, Allanson JE, Reich EW, Pfeiffer RA, Clarke LA, Warman ML, Mulliken JB, Brueton LA, Winter RM, Price RA, Gasser DL, Muenke M (1994): Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. Hum Mol Genet 3:2153-2158.
27. Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD, Wilkie AOM (1995): Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet 9:173-176.
28. Saldino RM, Steinbach HL, Epstein CJ (1972): Familial acrocephalosyndactyly (Pfeiffer syndrome). Am J Roentgenol 116:609-622.
29. Sanchez JM, de Negrotti TC (1987): Variable expression in Pfeiffer syndrome. J Med Genet 18:73-75.
30. Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders CEM, Viskochil DH, Stewart JM, Wolff G, Ohashi H, Price RA, Cohen MM Jr, Muenke M (1995): Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 4:323-328.
31. Soekarman D, Fryns JP, van den Berghe H (1992): Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child. Genet Couns 3:217-220.
32. Stone P, Trevenen CL, Mitchell I, Rudd N (1990): Congenital tracheal stenosis in Pfeiffer syndrome. Clin Genet 38:145-148.
33. Van Dyke DC, Zackai EH, Diamond GR (1983): Clinical observation: ocular abnormalities in a patient with Pfeiffer syndrome (acrocephalosyndactyly, type V). J Clin Dysmorphol 1:2-5.
34. Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W (1995): Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 9:165-172.
35. Zippel H, Schüler KH (1969): Dominant vererbte Akrozephalosyndaktylie (ACS). Fortschr Röntgenstr 110:234-245.