Radiology, Vol 149, 129-131, Copyright © 1983 by Radiological Society of North America
Lenz-Majewski syndrome
RJ Gorlin and CB Whitley
Lenz-Majewski syndrome is a rare disorder of unknown etiology. The
condition is characterized by a disproportionately large head with large
fontanels and widely separated sutures that close late. The head appears
large relative to the reduced size of the trunk and limbs. The skin is
loose, wrinkled, and atrophic with prominent veins, especially in the
scalp. The ears are large and floppy, and frequently there is choanal
atresia or stenosis, nasolacrimal duct obstruction, and, in boys,
cryptorchidism and inguinal hernia. The disorder is characterized by
failure to thrive and mental retardation. In contrast to craniometaphyseal
and craniodiaphyseal dysplasias, the conditions most likely to be mistaken
for this disorder, there does not appear to be any impingement on cranial
nerves. The skeletal alterations are striking. The radiographic features
include progressive sclerosis of the skull, facial bones, and vertebrae;
broad clavicles and ribs; short or absent middle phalanges; diaphyseal
undermodeling and midshaft cortical thickening; metaphyseal and epiphyseal
hypostosis; and retarded skeletal maturation. Tooth enamel is also
defective.
