[HTML][HTML] Renal involvement in a child with Donnai-Barrow syndrome
G Kumar, M Chaudhry, KMMM Faris… - Asian Journal of …, 2018 - journals.lww.com
Donnai-Barrow or facio-oculo-acoustico-renal (DB/FOAR) syndrome is characterized by
typical craniofacial features, ocular findings, sensorineural hearing loss and agenesis of the
corpus callosum along with varying degree of intellectual disability. Renal involvement in the
form of low molecular weight proteinuria is commonly reported. We report a case of an 8-
year-old girl with DB/FOAR syndrome which was genetically confirmed to have a novel
frameshift mutation, c. 13139del in exon 72 of LRP2, the gene encoding low density …
typical craniofacial features, ocular findings, sensorineural hearing loss and agenesis of the
corpus callosum along with varying degree of intellectual disability. Renal involvement in the
form of low molecular weight proteinuria is commonly reported. We report a case of an 8-
year-old girl with DB/FOAR syndrome which was genetically confirmed to have a novel
frameshift mutation, c. 13139del in exon 72 of LRP2, the gene encoding low density …