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.
Endozytosestörungen der proximalen Tubulusfunktion | ||||
Donnai-Barrow-Syndrom | ||||
LRP2 | ||||
Imerslund-Grasbeck-Syndrom | ||||
1. |
Donnai D et al. (1993) Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? |
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) |