Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Thanatophore Dysplasie 2

Die Thanatophore Dysplasie 2 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 2 sind der relativ lange Femur und der Kleeblattschädel.

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
Thanatophore Dysplasie 2
FGFR3
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.

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

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3.

Lin T et. al. (2003) A central nervous system specific mouse model for thanatophoric dysplasia type II.

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4.

Li D et. al. (2006) Thanatophoric dysplasia type 2 with encephalocele during the second trimester.

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5.

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

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6.

None (1989) Prevalence of lethal osteochondrodysplasias in Denmark.

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7.

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

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8.

Isaacson G et. al. (1983) Thanatophoric dysplasia with cloverleaf skull.

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9.

Horton WA et. al. (1983) Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia.

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