Fig. 1.

Phenotype of twins with FUT8-CDG.

Clinical presentation of patient A (A) and patient (B) pretreatment. Both patients show typical dysmorphisms with an arched palate, low- set ears, a broad nasal bridge, and a prominent epicanthal fold. Strabismus is present in both individuals. Note the muscular hypotonia necessitating support to keep an upright position. Over the course of L-fucose the treatment, the clinical presentation improved with improvement of muscle tone and discontinuation of ventilatory support (C).