Publication

Abstract : There are innumerable causes of enlarged kidneys along with dysmorphism in the foetus. Various chromosomal microdeletion syndromes, ciliopathies, Zellweger syndrome, Perlman syndrome and congenital disorders of glycosylation. CDG are a large group of syndromes which cause disruption of one of the several synthetic pathways of glycan synthesis. Here, we describe an unusual and extremely rare presentation cause of enlarged foetal kidneys due to a novel missense variant causing Gillessen-Kaesbach–Nishimura syndrome. The role of deep phenotyping is emphasised as it is a pre-requisite for making a diagnosis and establishing a given mutation as pathogenic. The genetic and clinic aspects of the previously published data are also reviewed.