“…Clinical features include facial dysmorphism (broad forehead, hypertelorism, down-slanting palpebral fissures, short/webbed neck, low-set, posteriorly rotated ears), congenital heart defects, renal anomalies, growth restriction, short stature, developmental delays, hearing loss, and lymphatic dysplasia. 6 As a neonate, the facial features with NS are not prominent, 7 and our patient did not present with dysmorphic facial features, congenital heart, or renal malformations. The diagnosis of NS was made by whole-exome sequencing.…”