Klinik: 

Definition: 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.

Literatur: 

Chassaing N et al. (2003) Donnai-Barrow syndrome: four additional patients.
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.
Donnai D et al. (1993) Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
Gripp KW et al. (1997) Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.
Holmes LB et al. (1972) Syndrome of ocular and facial anomalies, telecanthus, and deafness.
Kantarci S et al. (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
OHLSSON L et al. (1963) CONGENITAL RENAL DISEASE, DEAFNESS AND MYOPIA IN ONE FAMILY.
Schowalter DB et al. (1997) Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review.