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.
Dolichospondylic Dysplasia; Three M Slender-Boned Nanism
(3-MSBN), Le Merrer Syndrome, Gloomy Face Syndrome, 3M Syndrome.
The three M refers to the
initials of the authors (McKusick, Miller, and Malvaux) who described this
Autosomal recessive trait. It has been
suggested that it is located on chromosome 6 (6p21.1).
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
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