Congenital disorder of the bone and joints with
characteristic facial features. The presence of laryngeal stenosis may be a
significant anesthetic consideration.
Only a few cases reported in the literature.
Etiology unknown. Primary pathology may be in the
joint capsules rather than the bone itself. A characteristic feature is bony
overgrowth of the cartilaginous skeleton, which produces increased width
rather than length of the bones, together with enlargement of the bone ends.
Based on clinical features. Radiologic features include
evidence of delayed bone age, marked broadening of the phalanges with
evidence of flexion deformity, increase in width of the vertebrae, and
bizarre enlargement of the posterior neural arches of the cervical
Short stature; mongoloid facies; brachydactyly;
genu recurvatum; short, spade-like hands; broad thumbs in valgus position;
thick palmar and forearm fasciae; shuffling, short-stepped gait; decreased
joint mobility; and laryngeal stenosis.
Assess airway and neck mobility.
Difficult tracheal intubation because of
limited neck movement and laryngeal stenosis.
No known specific pharmacological
implications; however, several patients will be on chronic corticosteroid
therapy and will require intraoperative supplementation.
Acromicric Dysplasia: Mild facial abnormalities, short hands and
feet, short stature with delayed bone maturation (may be the same disease as
Léri-Weill Syndrome: Dominant pseudoautosomal skeletal dysplasia
with mesomelic short stature as a result of the loss of one copy of the
short stature homeobox gene (SHOX) located on the short arm of the X or Y
Moore-Federman Syndrome: Short stature with disproportionately
short legs, joint limitations, ocular anomalies, laryngeal stenosis.
Autosomal dominant transmission.
Greenspan A, Azouz EM: Bone dysplasia series. Melorheostosis: Review and
update. Can Assoc Radiol J
Hoshi K, Amizuka N, Kurokawa T, et al: Histopathological characterization of