Depigmentation of hair, skin, and eyes associated with the Apert syndrome

A new association of albinism with the Apert syndrome (acrocephalosyndactyly) is described. Five of the 9 cases presented with the syndrome showed an associated depigmentation of hair, skin, and eyes. The hair color ranged from light brown to blond, skin was pale, and irrides were hazel or blue. Iris transillumination and depigmentation of the fundus were associated with absent or diffuse foveal reflexes. Unlike most forms of classic oculocutaneous albinism, however, there was good visual acuity and no pendular nystagmus. Serum tyrosine and phenylalanine levels as well as chromosome studies performed on some of these patients were found to be normal. The associated findings of generalized depigmentation and congenital skeletal defects appear to indicate that two apparently independent developmental processes are influenced by genetic factors that became activated at a common point in gestation. The results in the Apert syndrome is the characteristic phenotypic expression involving the limbs, craniofacial areas, and a generalized deficiency in pigmentation of ocular and body tissues.