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Congenital disorder that includes dwarfism, low birth weight, and dysmorphic craniofacial features (dolichocephaly, prominent forehead [frontal bossing], triangular-shaped face with pointed chin, large ears, and small mouth). Other features include fragile vertebral column, distinctive malformations of the ribs and scapulae, clinodactyly, short fifth finger, and hyperextensibility of joints.

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Dolichospondylic Dysplasia; Three M Slender-Boned Nanism (3-MSBN), Le Merrer Syndrome, Gloomy Face Syndrome, 3M Syndrome.

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The three M refers to the initials of the authors (McKusick, Miller, and Malvaux) who described this syndrome.

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Autosomal recessive trait. It has been suggested that it is located on chromosome 6 (6p21.1).

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The clinical features are low birth weight dwarfism, short stature, triangular-shaped face (hatchet face), prominent lips, prominent trapezia muscles, grooved anterior thorax, horizontal ribs, winging of the scapulae, hypospadias, spina bifida occulta, and delayed closure of the anterior fontanelle. Radiologically, the vertebral bodies are tall, long bones appear slender, and there is evidence of delayed bone maturation.

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Careful assessment of airway anatomy. Careful assessment of pulmonary function in presence of marked deformity. High incidence of spina bifida occulta. Changes in vertebral bodies may cause difficulty if using regional techniques. Difficult laryngoscopy may be expected because of the small mouth opening and shape.

Winter R, Braitser M, Grant D et al: The 3-M syndrome. J Med Genet 21:124, 1984.  [PubMed: 6716411]

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