Associated with craniofacial, ocular, skeletal anomalies, and normal intelligence.
Reported in only one family.
Most likely autosomal dominant inheritance.
Short stature. Frontal bossing with a hypoplastic mandible. Leg length difference with a pelvic tilt. Intelligence is normal.
Assess neck mobility due the possibility of fused and abnormal cervical vertebrae (x-ray, CT-scan). Difficult airway management must be expected in the presence of fused cervical vertebrae and hypoplastic mandible. Maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered.
DW: Dominantly inherited asymmetric short stature with associated anomalies: A new syndrome (Abstract). Am J Hum Genet 32:114A, 1980.