A 2 years 9 months old baby boy came with complaints of inability to walk, difficulty in thriving (short stature), generalized weakness. The baby was born to a non-consanguine couple, with spontaneous conception by lower segment Caesarean section (LSCS) with birth weight of 2.5kgs, cried immediately after birth (CIAB) with congenital cardiac anomaly and 2D ECHO suggestive of supravalvular aortic stenosis with branch PA stenosis, Facial dysmorphism like Williams syndrome and global developmental delay (Motor + cognitive).
Baby was evaluated and a CT Abdomen revealed atrophy of right kidney (not visualized). A proper genetic evaluation was done and Multiplex Ligation-dependent Probe Amplification (MLPA) report of heterozygous deletion of 3 probe revealed Williams-Beuren syndrome. Patient was provisionally diagnosed with Williams-Beuren syndrome. Taking into consideration of all the above aspects patient was referred to higher centre (NIMS Hospital ) for pre-test genetic counselling and further treatment.
