Banange ! We have a dysmorphic infant! What next?

Department of Pediatrics and Child Health, Mulago National Referral Hospital

The document serves as a clinical presentation on dysmorphology and genetics, starting with the critical question of what to do when faced with a dysmorphic infant. It details the global causes of neonatal death and the incidence of birth defects, including chromosomal abnormalities, in Uganda. The presentation distinguishes between major and minor anomalies, provides examples, and stresses the sensitivity required when describing these to parents. It elaborates on the diagnostic process for dysmorphic children, emphasizing that multiple abnormalities can point to specific genetic or environmental causes, and underscores the importance of family history and pedigree charting. The latter part of the presentation delves into specific genetic syndromes like those in the RAS/MAPK pathway (e.g., Legius syndrome), Noonan syndrome, and Marfan syndrome, discussing their clinical features, genetic basis, and management. It also touches upon available genetic testing and counseling services in Uganda.