TY - JOUR T1 - Malar rash in classical homocystinuria JF - BMJ Case Reports DO - 10.1136/bcr-2017-220296 VL - 2017 SP - bcr-2017-220296 AU - Arushi Gahlot Saini AU - Hansashree Padmanabha AU - Savita Attri AU - Pratibha Singhi Y1 - 2017/05/02 UR - http://casereports.bmj.com/content/2017/bcr-2017-220296.abstract N2 - An 8-year-old girl with intellectual disability and severe myopia presented with subacute bilateral painless loss of vision. Anthropometric examination showed a weight of 26 kg (−0.1 Z score), height of 122.5 cm (between −1 and −2 Z score), arm span of 129 cm (6.5 cm longer than the height) and head circumference of 51 cm (between −1 and −2 Z score). Physical examination showed thin, hypopigmented hair with malar rash (figure 1A), acral hyperpigmentation, bilateral inferonasal subluxation of lens and bilateral optic atrophy. Other marfanoid features such as arachnodactyly, high-arched palate, joint hyperlaxity and cardiac anomalies were absent. A clinical diagnosis of classical homocystinuria was … ER -