Summary A severe bone dysplasia in which osteopathia striata is associated with cranial sclerosis, dysmorphic facies, cleft palate, deafness, heart defects, and vertebral anomalies with variability of expression.
Neurological findings range from normal development to psychomotor retardation and hydrocephalus.
Macrocephaly, osteosclerosis of cranial and facial bones, thickening of the base of the skull, frontal bossing, mandibular prognathism, maxillary hypoplasia, delayed closing of anterior fontanels, and square facies. Hypertelorism, blepharoptosis, cataracts, and hypoplastic orbital ridges. Broad depressed bridge, hypoplasia of paranasal sinuses, and nasal obstruction. Clubfoot, long and thin fingers, and clinodactyly. Scoliosis, spondylolisthesis and spina bifida.