Donnai-Barrow-Syndrom
Das FOAR-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen des LRP2-Gens hervorgerufen wird. Das klinische Bild ist geprägt von einer diaphragmalen Hernie, Exomphalos, fehlendes Corpus callosum, Hypertelorismus, Myopie, Innenohrschwerhörigkeit und Proteinurie.
Gliederung
Endozytosestörungen der proximalen Tubulusfunktion
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Donnai-Barrow-Syndrom
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LRP2
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Imerslund-Grasbeck-Syndrom
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Referenzen:
| 1. |
Donnai D et al. (1993) Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? [^] |
| 2. |
Devriendt K et al. (1998) Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity. [^] |
| 3. |
Chassaing N et al. (2003) Donnai-Barrow syndrome: four additional patients. [^] |
| 4. |
Kantarci S et al. (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. [^] |
| 5. |
None (1963) CONGENITAL RENAL DISEASE, DEAFNESS AND MYOPIA IN ONE FAMILY. [^] |
| 6. |
Holmes LB et al. (1972) Syndrome of ocular and facial anomalies, telecanthus, and deafness. [^] |
| 7. |
Gripp KW et al. (1997) Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. [^] |
| 8. |
Schowalter DB et al. (1997) Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review. [^] |
| 9. |
Orphanet article Orphanet ID 2143 [^] |
| 10. |
OMIM.ORG article Omim 222448 [^] |
| 11. |
Wikipedia Artikel Wikipedia DE (Donnai-Barrow-Syndrom) [^] |
