Case: History: A 10-year-old boy referred for the evaluation of short stature. He was born to a 3rd degree of consanguineous marriage, delivered by caesarean section, first in twin pregnancy, birth weight was 2300 g, no history of any neonatal seizures, prolonged jaundice. His motor and mental milestones were delayed. Parents observed decreased height velocity from the age of 3 years. There is no history of any chronic systemic disease or infections.
He is poor at academics. Physical Examination: On examination, his height was 118 cm US/LS, standard deviation score (SDS) was − 3.2, weight 17 kg, and head circumference was 49 cm. He had triangular facies, maxillary hypoplasia, short neck, hypoplastic ear lobes, drooping shoulders, clinodactyly (Image 1) and (Image 2), single palmar crease, shawl scrotum. His vitals were, P/R - 100/mt, blood pressure - 90/70 mm of Hg. Systemic examination…
