Dysmorphic neonate: an approach to diagnosis in the current era

A dysmorphic neonate is a cause of concern and anxiety for the parents and the physician. Making a clinical diagnosis allows a targeted search for a genetic aetiology in order to correctly delineate the healthcare requirements of the infant and also allows the parents to search for and join a ‘support group’. It allows a more accurate estimate of the risk of recurrence and therefore allows genetic counselling. It allows prognostication and permits interventions that may prevent, anticipate or more successfully treat complications. The approach to a dysmorphic neonate is similar to making a diagnosis of a neonate with any systemic illness and relies on a detailed history, a meticulous clinical examination, identifying a syndrome based on a combination of signs, or sometimes ‘by gestalt’. Cytogenetics and molecular techniques improve our ability to make precise syndrome diagnoses. Eventhough there is a certain degree of urgency in making a diagnosis in a dysmorphic neonate, a snap diagnosis should never be made. Around 4,000 malformation syndromes have now been delineated and many are associated with medical problems. Thus making a specific syndrome diagnosis can influence immediate medical management. A detailed history, a physical examination for detailing the major and minor anomalies, recording the growth, examination of previous records and photographs are complemented by cytogenetics and molecular genetic techniques in achieving a diagnosis. Familiarity with dysmorphology databases and cross referencing the anomalies especially the rarer ones helps in narrowing the differential diagnosis. Correspondence to: Vishal Vishnu Tewari, Senior Advisor (Pediatrics and Neonatology), Department of Pediatrics, Army Hospital (Referral and Research), New Delhi, India, Tel: +91-8826118889, E-mail: [email protected]