LAUSR

A 4‐year‐old boy presented with a deviation of the right eye along with involuntary movements of both eyes. An ocular examination revealed right exotropia of 90 prism diopters (D) deviation, bilateral nystagmus with both eyes not able to maintain steady fixation, and right face turn [Fig. 1]. Nystagmus was spontaneously present in the primary position—constant, pendular, conjugate, horizontal, increased with distance fixation attempt and dampened with convergence. Atropine refraction revealed a − 9.0 D sphere in the right eye and a –7.0 D sphere in the left eye. The anterior segment examination was normal and the fundus examination revealed a tessellated fundus with a temporal myopic crescent. On physical examination, he had coarse facies with short stature (achondroplasia) and long thorax; ectodermal dysplasia and cryptorchidism [Fig. 2]. His weight was 11.5 kg, height was 81 cm, and head circumference was 46.6 cm (all below 2 SD). The chest circumference was 43 cm, the upper segment: lower segment ratio was 1.36:1 and the arm span was 75.5 cm. The upper and lower extremities were short, clubby, and shortened out of proportion to the trunk. The hands were wider than normal and the feet were square‐shaped with wide space between the hallux and the rest of the toes. As compared to his hands, the digits were proportionately short. He had thin and sparse hair and eczematous skin reaction over his forehead [Fig. 2].