Gestalt diagnosis of children with dysmorphism - Necessity for establishing genetic diagnostic approach

Abstract

Informed written consent was taken from parents of every patient to use the photograph and data for diagnostic and academic purposes. Results: Among total participants, 40% had severe cognitive delay 35% had a moderate delay, 25% had a mild cognitive delay, 70% had behavior problems and 55% had ASD and/or ADHD features. Seizure was present in 35% of patients. Among other comorbidities; speech and language delay were in 65%, motor delay was in 50%, vision impairment was in 10%, hearing impairment was in 15 %. Suspected cases were, Noonan syndrome: 4, Angelman syndrome: 3, Fragile X syndrome: 2, Kabuki syndrome: 2, Sotos syndrome: 2. Genetic diagnosis could be established in only 2 patients with suspected fragile X syndrome. Conclusion: The study emphasizes the necessity to approach gestalt diagnosis in syndromic children with IDD along with locally available low-cost genetic diagnostic facility thereby increasing the possibility of providing appropriate management and/or genetic counseling.