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Patient 2 (a) at 14 years of age. Note the myopathic-appearing face, wide and depressed nasal bridge, anteverted nares with thick alae nasi, everted thick vermilion of the lower lip, and long philtrum. (b) Left hand: there is a smaller dystrophic nail on a broad thumb, and the remaining fingernails are hypoplastic. (c) Right foot: note the elongated hallux and near to true absence of toenails.
