Associated with craniofacial, ocular, and skeletal
anomalies. Intelligence is normal.
Extremely rare; reported in only
one family. Most likely autosomal dominant inheritance.
Short stature. Frontal bossing with a hypoplastic
mandible. One leg is shorter than the other, with a pelvic tilt.
Intelligence is normal.
Assess neck mobility because of the
possibility of fused abnormal cervical vertebrae (radiograph, CT scan).
Assess degree of difficulty of intubation in the presence of a hypoplastic
mandible. Difficult airway management must be expected in the presence of
fused cervical vertebrae and hypoplastic mandible. Avoid neuromuscular
blockers to maintain spontaneous breathing until the airway has been
Jung HH, Smith DW: Dominantly inherited asymmetric short stature with
associated anomalies: A new syndrome. Am J Hum Genet 32:114A, 1980.