Profile of clinical features, congenital heart disease and other comorbidities in children with Down syndrome in a tertiary care centre in Nigeria

Background: Down syndrome (DS) is a common chromosomal disorder associated with congenital heart disease (CHD) which could lead to severe morbidity or mortality.

Objective: To determine the frequency and spectrum of clinical features, CHD and other comorbidities in children with DS in a tertiary care centre in Nigeria.

Method: Consecutive children with clinical features of DS were recruited. The frequency of clinical features and co-morbidities were noted. All the children had echocardiographic evaluation to identify those with CHD.

Results: A total of 64 children was recruited of which 36 (56%) were male. Fifty one (80%) had CHD of which atrio-ventricular septal defect (AVSD) was the commonest, being found in 20 (39%) children. Common clinical features present were oblique eyes in 64 (100%), depressed nasal bridge in 60 (94%) low set ears in 53 (83%) and epicanthal folds in 50 (78%).

Conclusions: Prevalence of CHD amongst DS children in this study was 80% with AVSD being the commonest. The most prevalent clinical features seen in these children were oblique eyes, epicanthal fold, depressed nasal bridge, low set ears, hypertelorism and hypotonia. 

Sri Lanka Journal of Child Health, 2018; 47(1): 50-55