Abstract
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, mental retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1). It is a heterogeneous syndrome, and a number of variant cases have been reported. We report a patient with the features of COFS, with associated widespread hyperpigmented patches.
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