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.
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Wilcox WR et al. (1998) Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. |
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Lin T et al. (2003) A central nervous system specific mouse model for thanatophoric dysplasia type II. |
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Li D et al. (2006) Thanatophoric dysplasia type 2 with encephalocele during the second trimester. |
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Norman AM et al. (1992) Thanatophoric dysplasia of the straight-bone type (type 2). |
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None (1989) Prevalence of lethal osteochondrodysplasias in Denmark. |
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Partington MW et al. (1971) Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship. |
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Isaacson G et al. (1983) Thanatophoric dysplasia with cloverleaf skull. |
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Horton WA et al. (1983) Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia. |
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OMIM.ORG article Omim 187601 |
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Orphanet article Orphanet ID 2655 |