Clinical features also include multiple anomalies
overlapping those encountered in other 22q11 deletions. Patients have short
stature, overabundant hair, elongated face with mandible anomalies as in
Pierre Robin syndrome, malformed ears and eyes (inability to close the eyes,
narrow palpebral fissures, malformed retinal vessels, blue sclerae, retinal
colobomas, cataracts), and basilar impression. Intracranial lesions concern
white matter and vermis. Language is slow and behavior disorders are
observed. Immunologic and endocrine systems are often involved: adenoids,
tonsils, and thymus are absent or small. In many cases, hypothyroidism and
hypocalcemia can occur. Cardiovascular anomalies are frequent, including
right aortic arch, ventricular septal defect, tetralogy of Fallot, abnormal
internal carotid arteries, and left subclavian artery. Other clinical signs
supplement the disease: scoliosis, abnormal extremities, inguinal hernia,
and anal anomalies.