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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 secured.

Jung HH, Smith DW: Dominantly inherited asymmetric short stature with associated anomalies: A new syndrome. Am J Hum Genet 32:114A, 1980.

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