Apert-Syndrom
Das Apert-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im FGFR2-Gen ausgelöst wird.
Syndaktylie | |
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Beim Apert-Syndrom fällt neben der Syndaktylie der verkleinerte Schädel (Akrozephalie/Stenozephalie) auf. |
Gliederung
Referenzen:
1. |
Moloney DM et al. (1996) Exclusive paternal origin of new mutations in Apert syndrome. [^] |
2. |
Wilkie AO et al. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. [^] |
3. |
Slaney SF et al. (1996) Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. [^] |
4. |
Oldridge M et al. (1997) Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. [^] |
5. |
Oldridge M et al. (1999) De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. [^] |
6. |
Lajeunie E et al. (1999) Clinical variability in patients with Apert's syndrome. [^] |
7. |
Glaser RL et al. (2003) The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. [^] |
8. |
Mantilla-Capacho JM et al. (2005) Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. [^] |
9. |
Andreou A et al. (2006) Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg). [^] |
10. |
Miraoui H et al. (2010) Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. [^] |
11. |
None (1977) Genetic perspectives on craniosynostosis and syndromes with craniosynostosis. [^] |
12. |
Cohen MM et al. (1992) Birth prevalence study of the Apert syndrome. [^] |
13. |
Kreiborg S et al. (1992) Cervical spine in the Apert syndrome. [^] |
14. |
Lefort G et al. (1992) Apert syndrome with partial preaxial polydactyly. [^] |
15. |
None (1991) Apert syndrome. Classification and pathologic anatomy of limb anomalies. [^] |
16. |
Cohen MM et al. (1990) The central nervous system in the Apert syndrome. [^] |
17. |
None (1989) Apert syndrome with polysyndactyly of the feet. [^] |
18. |
Sidhu SS et al. (1988) Recessive inheritance of apparent Apert syndrome with polysyndactyly? [^] |
19. |
Patton MA et al. (1988) Intellectual development in Apert's syndrome: a long term follow up of 29 patients. [^] |
20. |
None (1988) Male transmission of Apert syndrome. [^] |
21. |
Maroteaux P et al. (1987) Apparent Apert syndrome with polydactyly: rare pleiotropic manifestation or new syndrome? [^] |
22. |
None (1986) Germinal mosaicism in Apert syndrome. [^] |
23. |
Solomon LM et al. (1970) Pilosebaceous abnormalities in Apert's syndrome. [^] |
24. |
Erickson JD et al. (1974) A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome. [^] |
25. |
Hoover GH et al. (1970) The hand and Apert's syndrome. [^] |
26. |
Dodson WE et al. (1970) Acrocephalosyndactylia associated with a chromosomal translocation. 46,XX, t (2p-; Cq+). [^] |
27. |
Schauerte EW et al. (1966) Progressive synosteosis in Apert's syndrome (acrocephalosyndactyly), with a description of roentgenographic changes in the feet. [^] |
28. |
Leonard CO et al. (1982) Prenatal fetoscopic diagnosis of the Apert syndrome. [^] |
29. |
Cohen MM et al. (1995) Cutaneous manifestations of Apert syndrome. [^] |
30. |
Cohen MM et al. (1995) Hands and feet in the Apert syndrome. [^] |
31. |
Park WJ et al. (1995) Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. [^] |
32. |
Cinalli G et al. (1995) Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. [^] |
33. |
Pelz L et al. (1994) Esophageal stenosis in acrocephalosyndactyly type I. [^] |
34. |
Czeizel AE et al. (1993) Birth prevalence study of the Apert syndrome. [^] |
35. |
Cohen MM et al. (1993) Visceral anomalies in the Apert syndrome. [^] |
36. |
Renier D et al. (1996) Prognosis for mental function in Apert's syndrome. [^] |
37. |
Tolarova MM et al. (1997) Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome. [^] |
38. |
Lomri A et al. (1998) Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. [^] |
39. |
Chang CC et al. (1998) Prenatal diagnosis of Apert syndrome. [^] |
40. |
von Gernet S et al. (2000) Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. [^] |
41. |
DODGE HW et al. (1959) Craniofacial dysostosis: Crouzon's disease. [^] |
42. |
None (1960) Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases. [^] |
43. |
Quintero-Rivera F et al. (2006) Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. [^] |
44. |
Khong JJ et al. (2006) Ophthalmic findings in apert syndrome prior to craniofacial surgery. [^] |
45. |
Hill CA et al. (2013) Postnatal brain and skull growth in an Apert syndrome mouse model. [^] |
46. |
Orphanet article Orphanet ID 87 [^] |
47. |
OMIM.ORG article Omim 101200 [^] |
48. |
Wikipedia Artikel Wikipedia DE (Apert-Syndrom) [^] |