Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Donnai-Barrow-Syndrom
LRP2
Imerslund-Grasbeck-Syndrom

Referenzen:

1.

Donnai D et al. (1993) Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

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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.

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3.

Chassaing N et al. (2003) Donnai-Barrow syndrome: four additional patients.

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4.

Kantarci S et al. (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

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5.

None (1963) CONGENITAL RENAL DISEASE, DEAFNESS AND MYOPIA IN ONE FAMILY.

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6.

Holmes LB et al. (1972) Syndrome of ocular and facial anomalies, telecanthus, and deafness.

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7.

Gripp KW et al. (1997) Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.

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8.

Schowalter DB et al. (1997) Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review.

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9.

Orphanet article

Orphanet ID 2143 [^]
10.

OMIM.ORG article

Omim 222448 [^]
11.

Wikipedia Artikel

Wikipedia DE (Donnai-Barrow-Syndrom) [^]
Update: 9. Mai 2019