She had congenital ichthyosis, brittle hair, intellectual impairment, possibly decreased fertility, short stature and the typical facial features of micrognathia and prominent ears.

• 她有先天性鱼鳞癣，脆弱毛发，智能障碍，可能降低的生育能力，矮小体格和典型的脸部特徵一下颚过小和突出的耳朵。