A 6-year-old boy, who was being treated for nephrotic syndrome, developed pain in both knees with difficulty in walking since a few months. On examination, he was noticed to have small and depressed fingernails.
The photograph of the hand shows regular, fragmented and small nails. Radiographs of both knees show small hypoplastic patellae.
Nonsense mutation of LMX1B was found on genetic testing