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a Department of
Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road,
Ottawa, ON K1H 8L1, Canada, b Medical Genetics Branch, National Human Genome
Research Institute, National Institutes of Health, Bethesda, MD, USA, c Georgetown University Medical Center, Washington
DC, USA
Correspondence to: Dr Allanson.
Received 27
May 1998;
Revised version accepted for publication 3 September
1998
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 brows are heavy,
with excessive lateral extension of the eyebrows. The eyes slant
upwards and appear close set and deep set. The nose has a depressed
root and, in the young child, a scooped bridge. With time, the bridge
becomes more ski jump shaped. The 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, mandibular
growth is greater than average and exceeds that of the maxilla. This
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 counterparts. Craniofacial widths are greater than
corresponding depths and heights. Nasal height is reduced while nasal
width is increased. There is mild brachycephaly. The most marked age
related changes are increased width of the nose and lower face
(mandibular width) with reduction in nasal height and midfacial depth.
This article has been cited by other articles:
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 W. Bi, T. Ohyama, H. Nakamura, J. Yan, J. Visvanathan, M. J. Justice, and J. R. Lupski Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome Hum. Mol. Genet., April 15, 2005; 14(8): 983 - 995. [Abstract] [Full Text] [PDF]
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 B. P. Shelley and M. M. Robertson The Neuropsychiatry and Multisystem Features of the Smith-Magenis Syndrome: A Review J Neuropsychiatry Clin Neurosci, February 1, 2005; 17(1): 91 - 97. [Abstract] [Full Text] [PDF]
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H De Leersnyder, J L Bresson, M-C de Blois, J-C Souberbielle, A Mogenet, B Delhotal-Landes, F Salefranque, and A Munnich {beta}1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome J. Med. Genet., January 1, 2003; 40(1): 74 - 78. [Full Text] [PDF]
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H. De Leersnyder, M.-C. de Blois, M. Vekemans, D. Sidi, E. Villain, C. Kindermans, and A. Munnich {beta}1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome J. Med. Genet., September 1, 2001; 38(9): 586 - 590. [Abstract] [Full Text] [PDF]
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