Clinical Profiles, Congenital Heart Disease, and Other Comorbidities Among Egyptian Children with Down Syndrome: A Tertiary Center Study

Abstract Introduction Down syndrome (DS) is the most common chromosomal disorder. It accompanied by several comorbidities, which could lead to severe morbidity and mortality. Congenital heart disease (CHD) one of commonly described condition. Objective This study aimed determine clinical profiles, dysmorphic features, CHD, DS associated comorbidities in a tertiary center (Cairo, Egypt). Patients Methods descriptive included 290 patients diagnosed with DS, who presented Clinical Genetics clinic, Cairo University Children Hospitals, from February 2018 December 2019. The patients' ages ranged 2 4 years old. All were evaluated full history, examination, anthropometric measurements, assessment developmental milestones. Patients' diagnostic investigations including karyotype, thyroid function, echocardiography checked. Results population consisted children 196 (67.6%) male, 115 (40%) had prevalent atrial septal defect (ASD), patent ductus arteriosus (PDA), ventricular (VSD) accounting for 10.7, 7.1, 4.2%, respectively. Common features upward slanting palpebral fissures (98.6%), hypertelorism (97.9%), sandal gap (60.7%). Thyroid dysfunction was second comorbidity, found 35 (12.1%). Global delay reported affecting language (99%), motor (94.8%), social (92.8%) domains. Conclusion prevalence CHD among 40% ASD, PDA, VSD being commonest. comorbidity. fissures, hypertelorism, gap. Developmental very common, affected domain.