Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Kongenitale Kontraktur-Arachnodaktylie

Die kongenitale Kontraktur-Arachnodaktylie ist eine autosomal dominante Erkrankung, die durch Mutationen im FBN2-Gen ausgelöst wird.

Gliederung

Angeborene Skelettfelbildungen
Al-Gazali-Bakalinova-Syndrom
Brachydaktylie
Branchio-okulo-faziales Syndrom
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Hydrolethalus 2
Kongenitale Kontraktur-Arachnodaktylie
FBN2
Lakrimo-aurikulo-dento-digitales Syndrom
Lippen-Kiefer-Gaumenspalte 11
Multiple Synostosen
Orofaciodigitales Syndrom
Parodontales Ehlers-Danlos-Syndrom
Proximaler Symphalangismus
Renale tubuläre Azidose mit Arthrogrypose
Simpson-Golabi-Behmel-Syndrom
Stapesankylose mit breiten Daumen und Zehen
Syndaktylie Typ 5
Syndrom der multiplen Synostosen 3
Synpolydaktylie Typ 1
Tarsal-Karpal-Fusions-Syndrom
Tatton-Brown-Rahman-Syndrom
Townes-Brocks-Syndrome
Trigonocephalie 2
Van Maldergem-Syndrom 2

Referenzen:

1.

Lee B et al. (1991) Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

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2.

Putnam EA et al. (1995) Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

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3.

Zhang H et al. (1995) Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils.

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4.

Zhang H et al. (1994) Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices.

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5.

Wang M et al. (1996) Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

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6.

Putnam EA et al. (1997) Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.

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7.

Belleh S et al. (2000) Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

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8.

Mirise RT et al. (1979) Congenital contractural arachnodactyly: description of a new kindred.

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9.

Gruber MA et al. (1978) Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infant.

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10.

Bawle E et al. (1992) Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly.

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11.

Cole TR et al. (1992) Congenital contractural arachnodactyly with unilateral lower limb deficiency.

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12.

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13.

Huggon IC et al. (1990) Contractural arachnodactyly with mitral regurgitation and iridodonesis.

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15.

None (1985) Congenital contractural arachnodactyly. Report of a case and of an operation for knee contracture.

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Ramos Arroyo MA et al. (1985) Congenital contractural arachnodactyly. Report of four additional families and review of literature.

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Lipson EH et al. (1974) The clinical spectrum of congenital contractural arachnodactyly. A case with congenital heart disease.

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18.

Hecht F et al. (1972) "New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.

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19.

Lowry RB et al. (1972) Congenital contractural arachnodactyly: a syndrome simulating Marfan's syndrome.

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20.

Beals RK et al. (1971) Congenital contractural arachnodactyly. A heritable disorder of connective tissue.

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21.

Epstein CJ et al. (1968) Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears.

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22.

Anderson RA et al. (1984) Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred.

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23.

Delemarre-van de Waal HA et al. (1980) [Congenital contractural arachnodactyly].

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24.

Bass HN et al. (1981) Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree.

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25.

Godfrey M et al. (1995) Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.

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26.

None (1994) Congenital contractural arachnodactyly (Beals syndrome).

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27.

Kainulainen K et al. (1994) Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.

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28.

Bamshad M et al. (1996) A revised and extended classification of the distal arthrogryposes.

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29.

Park ES et al. (1998) Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.

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30.

Dixon MJ et al. (1999) Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.

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31.

Chaudhry SS et al. (2001) Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.

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32.

Gupta PA et al. (2002) Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.

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33.

BEYER P et al. (1965) [MARFAN'S DISEASE WITH IMPORTANT JOINT STIFFNESS AFFECTING 4 CHILDREN OF THE SAME KINSHIP AND THEIR MOTHER].

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34.

KINGSLEY-PILLERS EM et al. (1946) Arachnodactyly with amyoplasia congenita.

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35.

Orphanet article

Orphanet ID 115 [^]
36.

OMIM.ORG article

Omim 121050 [^]
Update: 29. April 2019