Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Thanatophore Dysplasie 1

Die Thanatophore Dysplasie 1 ist eine autosomal dominante Erkrankung, welche durch Mutationen im FGFR3-Gen ausgelöst wird. Sie ist eine lethale Form des Zwegwuchses mit stark verkürzten Extremitäten. Typisch für den Typ 1 ist der gebogene Femur. Dagegen ist der Kleeblattschädel nicht immer nachweisbar.

Gliederung

Knochendysplasie
Achondroplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
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
FGFR3
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

Tavormina PL et. al. (1995) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

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2.

Tavormina PL et. al. (1995) Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

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3.

Rousseau F et. al. (1996) Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

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4.

Wilcox WR et. al. (1998) Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

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5.

Sawai H et. al. (1999) Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.

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6.

Brodie SG et. al. (1999) Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

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7.

Pannier S et. al. (2009) Thanatophoric dysplasia caused by double missense FGFR3 mutations.

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8.

Reardon W et. al. (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

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9.

Orioli IM et. al. (1986) The birth prevalence rates for the skeletal dysplasias.

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10.

Waller DK et. al. (2008) The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.

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11.

Horton WA et. al. (1979) Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types.

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12.

Sillence DO et. al. (1978) Neonatal dwarfism.

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13.

None (1975) The chondrodystrophies.

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14.

Nissenbaum M et. al. (1977) Thanatophoric dwarfism. Two case reports and survey of the literature.

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15.

Corsello G et. al. (1992) Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.

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16.

Norman AM et. al. (1992) Thanatophoric dysplasia of the straight-bone type (type 2).

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17.

None (1989) Thanatophoric dysplasia in identical twins.

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18.

MacDonald IM et. al. (1989) Growth and development in thanatophoric dysplasia.

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19.

Young ID et. al. (1989) Thanatophoric dysplasia in identical twins.

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20.

None (1989) Prevalence of lethal osteochondrodysplasias in Denmark.

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21.

Horton WA et. al. (1988) Abnormal ossification in thanatophoric dysplasia.

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22.

Martínez-Frías ML et. al. (1988) Thanatophoric dysplasia: an autosomal dominant condition?

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23.

None (1987) A boy with thanatophoric dysplasia surviving 212 days.

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24.

Knowles S et. al. (1986) A new category of lethal short-limbed dwarfism.

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25.

Borochowitz Z et. al. (1986) A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.

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26.

Connor JM et. al. (1985) Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.

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27.

Stensvold K et. al. (1986) An infant with thanatophoric dwarfism surviving 169 days.

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28.

Elejalde BR et. al. (1985) Thanatophoric dysplasia: fetal manifestations and prenatal diagnosis.

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29.

Chemke J et. al. (1971) Familial thanatophoric dwarfism.

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30.

None (1974) Letter: Thanatophoric dwarfism in triplets.

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31.

Bouvet JP et. al. (1974) [Genetic study of thanatophoric dwarfism].

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32.

Graff G et. al. (1972) Familial recurring thanatophoric dwarfism. A case report.

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33.

Harris R et. al. (1972) Pseudo-achondrogenesis with fractures.

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34.

Pena SD et. al. (1973) The genetics of thanatophoric dwarfism.

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35.

Maroteaux P et. al. (1968) [Diagnosis of chondrodystrophic dwarfism in the newborn].

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36.

Kaufman RL et. al. (1970) Thanatophoric dwarfism.

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37.

Harris R et. al. (1971) Achondroplasia and thanatophoric dwarfism in the newborn.

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38.

None (1968) Thanatophoric dwarfism.

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39.

Partington MW et. al. (1971) Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship.

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40.

Keats TE et. al. (1970) Thanatophoric dwarfism.

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41.

Kozlowski K et. al. (1970) Thanatophoric dwarfism.

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42.

None (1971) Thanatophoric dwarfism in utero. A case report.

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43.

Maroteaux P et. al. (1967) [Thanatophoric dwarfism].

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44.

Ho KL et. al. (1984) Neuropathologic findings in thanatophoric dysplasia.

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45.

Serville F et. al. (1984) Thanatophoric dysplasia of identical twins.

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46.

Wongmongkolrit T et. al. (1983) Neuropathological findings in thanatophoric dysplasia.

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47.

Camera G et. al. (1984) Prenatal diagnosis of thanatophoric dysplasia at 24 weeks.

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48.

Hersh JH et. al. (1995) De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.

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49.

Schild RL et. al. (1996) Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis.

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50.

Baker KM et. al. (1997) Long-term survival in typical thanatophoric dysplasia type 1.

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51.

Delezoide AL et. al. (1997) Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.

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52.

None (2002) International nosology and classification of constitutional disorders of bone (2001).

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