Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Apert-Syndrom

Das Apert-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im FGFR2-Gen ausgelöst wird.

Symptome

Syndaktylie
Beim Apert-Syndrom fällt neben der Syndaktylie der verkleinerte Schädel (Akrozephalie/Stenozephalie) auf.

Gliederung

Knochendysplasie
Achondroplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
FGFR2
Blomstrand-Chondrodysplasie
Brachydaktylie Typ E2
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

Moloney DM et. al. (1996) Exclusive paternal origin of new mutations in Apert syndrome.

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2.

Wilkie AO et. al. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

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3.

Slaney SF et. al. (1996) Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

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4.

Oldridge M et. al. (1997) Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

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5.

Oldridge M et. al. (1999) De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

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6.

Lajeunie E et. al. (1999) Clinical variability in patients with Apert's syndrome.

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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.

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8.

Mantilla-Capacho JM et. al. (2005) Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.

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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).

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10.

Miraoui H et. al. (2010) Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.

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11.

None (1977) Genetic perspectives on craniosynostosis and syndromes with craniosynostosis.

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12.

Cohen MM et. al. (1992) Birth prevalence study of the Apert syndrome.

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13.

Kreiborg S et. al. (1992) Cervical spine in the Apert syndrome.

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14.

Lefort G et. al. (1992) Apert syndrome with partial preaxial polydactyly.

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15.

None (1991) Apert syndrome. Classification and pathologic anatomy of limb anomalies.

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16.

Cohen MM et. al. (1990) The central nervous system in the Apert syndrome.

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17.

None (1989) Apert syndrome with polysyndactyly of the feet.

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18.

Sidhu SS et. al. (1988) Recessive inheritance of apparent Apert syndrome with polysyndactyly?

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19.

Patton MA et. al. (1988) Intellectual development in Apert's syndrome: a long term follow up of 29 patients.

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20.

None (1988) Male transmission of Apert syndrome.

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21.

Maroteaux P et. al. (1987) Apparent Apert syndrome with polydactyly: rare pleiotropic manifestation or new syndrome?

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22.

None (1986) Germinal mosaicism in Apert syndrome.

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23.

Solomon LM et. al. (1970) Pilosebaceous abnormalities in Apert's syndrome.

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24.

Erickson JD et. al. (1974) A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome.

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25.

Hoover GH et. al. (1970) The hand and Apert's syndrome.

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26.

Dodson WE et. al. (1970) Acrocephalosyndactylia associated with a chromosomal translocation. 46,XX, t (2p-; Cq+).

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27.

Schauerte EW et. al. (1966) Progressive synosteosis in Apert's syndrome (acrocephalosyndactyly), with a description of roentgenographic changes in the feet.

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28.

Leonard CO et. al. (1982) Prenatal fetoscopic diagnosis of the Apert syndrome.

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29.

Cohen MM et. al. (1995) Cutaneous manifestations of Apert syndrome.

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30.

Cohen MM et. al. (1995) Hands and feet in the Apert syndrome.

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31.

Park WJ et. al. (1995) Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

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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.

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33.

Pelz L et. al. (1994) Esophageal stenosis in acrocephalosyndactyly type I.

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34.

Czeizel AE et. al. (1993) Birth prevalence study of the Apert syndrome.

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35.

Cohen MM et. al. (1993) Visceral anomalies in the Apert syndrome.

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36.

Renier D et. al. (1996) Prognosis for mental function in Apert's syndrome.

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37.

Tolarova MM et. al. (1997) Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome.

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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.

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39.

Chang CC et. al. (1998) Prenatal diagnosis of Apert syndrome.

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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.

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41.

DODGE HW et. al. (1959) Craniofacial dysostosis: Crouzon's disease.

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42.

None (1960) Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases.

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43.

Quintero-Rivera F et. al. (2006) Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.

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44.

Khong JJ et. al. (2006) Ophthalmic findings in apert syndrome prior to craniofacial surgery.

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45.

Hill CA et. al. (2013) Postnatal brain and skull growth in an Apert syndrome mouse model.

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