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Donnai-Barrow syndrome
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Donnai-Barrow syndrome

Clinical feature: 

Definition: The FAOR syndrome is an autosomal recessive disorder caused by mutations of the LRP2 gene. The clinical features include diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria.

Systematic link table: 

Nephrotic syndrome
Congenital nephrotic syndrome of the Finnish type
NPHS1
Congenital nephrotic syndrome, type 3
PLCE1
Donnai-Barrow syndrome
LRP2
Early-onset nephrotic syndrome with diffuse mesangial sclerosis
WT1
Pierson syndrome
LAMB2
Schimke Immunoosseous dysplasia
SMARCAL1
Steroid-resistant nephrotic syndrome
NPHS2

Literature: 

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.