The face of Smith-Magenis syndrome: a subjective and objective study

We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of "gestalt " and detailed facial measurement, using previously published methodology, with compilation of Z score pattern profiles. The facial phenotype of SMS is quite distinctive, even in the young child. The overall face shape is broad and square. The brews are heavy, with exces sive lateral extension of the eyebrows. The eyes slant upwards and appear c lose set and deep set. The nose has a depressed root and, in the young chil d, a scooped bridge. With time, the bridge becomes more ski jump shaped. Th e height of the nose is markedly reduced while the nasal base is broad and the tip of the nose is full. The shape of the mouth and upper lip are most distinctive. The mouth is wide with full upper and lower lips. The central portion of the upper lip is fleshy and everted with bulky philtral pillars, producing a tented appearance that, in profile, is striking. With age, man dibular growth is greater than average and exceeds that of the maxilla. Thi s leads to increased jaw width and protrusion and marked midface hypoplasia . Craniofacial pattern analysis supports these subjective impressions. After mid-childhood, mandibular dimensions consistently exceed their maxillary co unterparts. Craniofacial widths are greater than corresponding depths and h eights. Nasal height is reduced while nasal width is increased. There is mi ld brachycephaly. The most marked age related changes are increased width o f the nose and lower face (mandibular width) with reduction in nasal height and midfacial depth.