Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

Abstract

The deletion of the long arm of chromosome 4 is rare, presenting with a variable phenotype depending on the chromosomic area affected. A term newborn with prenatal diagnosis of anhydramnios, dysplastic cystic kidneys, and cardiomegaly was born with generalized subcutaneous edema, several dysmorphic features, and progressive renal failure requiring dialysis. The infant continued to deteriorate and died at 52 days of age. Autopsy confirmed bilateral renal dysplasia with cysts. Array-comparative genomic hybridization (CGH) identified a large deletion on 4q25-q28.3, which is not yet described in association with renal disease. The clinical progression could be expected due to the severity of the perinatal clinical presentation.

Keywords

chromosome 4q deletion - craniofacial malformations - renal dysplasia

Authors' Contributions

C.T.-S. conceived and wrote the manuscript. F.M. was a major contributor in writing the manuscript and revising language of the paper. S.C., G.R., P.S., and F.F.-d.-L. interpreted clinical data regarding the newborns' presentation and course. H.P. provided critical revision on the nephrourological abnormalities. C.R. reviewed all the prenatal data, including the fetal ultrasounds. R.O. reviewed the literature for chromosome 4 deletion syndromes and provided image of the array-CGH. O.B. reviewed the autopsy examination and provided photos. H.G. reviewed the manuscript for correcting English usage. All authors reviewed and approved the final manuscript.

Publication History

Received: 21 August 2019

Accepted: 18 December 2019

Article published online:
22 January 2020

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