Mid‐trimester absent nasal bone and transient unilateral hydronephrosis associated with 16p13.3 microduplication

Abstract

Characteristic phenotypic features of 16p13.3 microduplication include impaired mental development, arthrogryposis‐like musculoskeletal anomalies (club‐feet, congenital hip dislocation, and camptodactyly of fingers and toes), facial dysmorphology, and at times congenital cardiac disease. Most of the described affected individuals have microduplications involving the CREBBP gene. Findings indicate this gene to be dosage‐sensitive and likely involved in the phenotypes of 16p13.3 microduplication syndrome. We describe the incidental finding of 16p13.3 microduplication in a fetus with mid‐trimester sonographic examination showing absent nasal bone and transient unilateral hydronephrosis.

Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second‐trimester using chromosomal microarray analysis

“…In addition, previous studies have shown that patients with 16p13.3 duplication exhibit craniofacial deformities, including nasal bridge collapse, short nose, and others (Li et al, 2013; Menke et al, 2016). Moreover, Sherer et al (2021) reported a case involving a 408 kb duplication in the 16p13.3 region in a fetus with absent nasal bone and unilateral renal absence. While individuals with 16p13.3 microduplication present with various clinical phenotypes postnatally, prenatal ultrasound may only reveal absent or hypoplastic nasal bone.…”