Bainbridge-Roper syndrome: A rare case of developmental delay

Abstract

ASXL3 mutations were first identified in 2013 by Bainbridge et al . as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features – postulated by Bainbridge et al . were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al ., Dinwiddie et al , Srivastava et al . and Hori et al .). In this report, we describe an uncertain variant present in Exon 11 of ASXL3(+) heterozygous zygosity in a female child with clinical features: truncal muscular hypotonia with significant motor delay, profound speech impairment, intellectual disability and a characteristic dysmorphic facies phenotype (open mouth, full lips, depressed nasal bridge, metopic prominence, microcephaly (45.5.cm), with camptodactyly and dysplastic fingers). Hence, we are reporting a rare case of developmental delay.