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A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis

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title

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis (English)

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Barbara R Pober

1

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Mauro Longoni

series ordinal

2

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Kristin M Noonan

series ordinal

3

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language of work or name

English

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publication date

January 2009

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published in

Birth Defects Research Part A: Clinical and Molecular Teratology

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volume

85

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issue

1

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page(s)

76-81

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cites work

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

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Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

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24 March 2017

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24 March 2017

LRP2/megalin is required for patterning of the ventral telencephalon

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Megalin deficiency induces critical changes in mouse spinal cord development

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27 September 2017

Ocular manifestations of Donnai-Barrow syndrome

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The role of megalin (LRP-2/Gp330) during development

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27 September 2017

Megalin and the neurodevelopmental biology of sonic hedgehog and retinol

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Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

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Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review

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High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance.

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30 May 2018

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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Syndrome of ocular and facial anomalies, telecanthus, and deafness

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Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

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Overlapping expression patterns of the multiligand endocytic receptors cubilin and megalin in the CNS, sensory organs and developing epithelia of the rodent embryo

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Donnai-Barrow syndrome: four additional patients.

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Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance

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retrieved

12 December 2020

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PubMed publication ID

19089858

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ResearchGate publication ID

23670744

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(Q24597892)

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis

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