A syndrome of multiple abnormalities noted at birth involving the head, limbs, heart, ears, and skin. The main features include craniofacial defects, limb abnormalities and congenital heart defect.
In the first year the affected child has breathing difficulties with frequent respiratory infections, attacks of cyanosis. Development slow, eventually with help, patient partially overcame difficulty of ambulation, learned to walk with special crutches at 5 years of age. Intelligence normal despite signs of increased intracranial pressure. The first case was reported in a boy of eight years. Very few cases reported, usually sporadic.
- N. Sakati, W. L. Nyhan, W. K. Tisdale:
A new case with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin and lower limbs.
Journal of Pediatrics, St. Louis, 1971, 79: 104-109.