English

Abstract

BACKGROUND: Congenital Diaphragmatic Hernia (CDH) is an anatomical defect that permits abdominal contents inside the thoracic cavity and affects 1 in 2000 to 5000 children each year and is associated with high morbidity and mortality. CDH may be associated with other anomalies like dysmorphic features, genitourinary, musculoskeletal, cardiovascular, neurological and gastrointestinal malformations.CDH is a devastating birth defect that can occur in isolation or part of complex malformation of various syndromes. Here we report an autopsy study of CDH with Fryns syndrome. CASE PRESENTATION: An autopsy study of still born foetus born to a 35-year old, fifth gravida presented with features of CDH with left lung hypoplasia, hypoplasia of distal parts of digits of upper and lower limbs and dysmorphic features. CONCLUSION: CDH is a life threatening pathology in infants and a major cause of death due to pulmonary hypoplasia and pulmonary hypertension. An early diagnosis with increased understanding of this disease is a crucial factor for a timely approach to manage the critically ill infant and to offer potential treatment for improved outcome and substantial reduction in morbidity.