Cornelia De Lange Syndrome with left heart hypoplasia: a case study

Abstract

Cornelia de Lange syndrome (CdLS) is characterized by slow growth that can lead to short stature. Despite mutations in the NIPBL, RAD21 or SMC3 genes, CdLS is thought to be inherited in an autosomal dominant manner. Findings include intellectual disability and bone abnormalities in the upper extremities and distinct facial features. It has similar characteristics to autism spectrum disorder, which is a developmental condition that affects communication and social interaction. The physical and clinical findings of a one-and-a-half-year-old girl patient diagnosed with CdLS were reported. In addition to NIPBL gene mutation, atrioventricular septal defect (AVSD), an overriding aorta, and a hypoplastic left heart (HLH) were observed in our case. This study revealed the patient's physical and clinical findings consistent with the diagnosis of CdLS. Additionally emphasized HLH. The importance of performing corrective surgery immediately following the evaluation of congenital heart diseases in CdLS patients can be emphasized.