Prominent supraorbital ridges, incomplete sinus
development, micrognathia with decreased angle, high palate, and delayed
eruption of teeth. Defective vision and hearing (conductive and
sensorineural). Congenital stridor, subglottic stenosis, laryngomalacia,
vocal cord paralysis, tracheal web, recurrent respiratory infection,
restrictive lung disease, and pulmonary hypertension secondary to scoliosis.
Scoliosis, cervical vertebral abnormalities and limited movement, and winged
scapula. Flexion contracture of joints (particularly fingers), poorly
developed musculature. Cardiac murmurs are common, but often no
abnormalities are found. However, mitral valve prolapse has been reported.
Bradycardia. Prognosis depends on the progression of ankylosis and thoracic
restriction (respiratory failure). Genitourinary tract obstructive anomalies
and hydrocephaly are not unusual.