Osteopathia striata with cranial sclerosis and hearing loss

Abstract

Osteopathia striata is a manifestation of several bone dysplasias. In association with cranial sclerosis, it represents a separate entity that is not limited to the bones, but may also affect other structures, leading to an abnormal face, cleft palate, deafness, heart defects and vertebral anomalies. Neurological findings range from normal development to marked retardation with hydrocephalus, cranial nerve deficiencies and deafness. So far, only a few patients have been described in the literature, demonstrating autosomal dominant inheritance. Here, we report a spontaneous mutation of inheritance. The parents and three sisters of the affected child are healthy. In 78.6% of the reported cases with osteopathia striata and hearing loss, a conductive hearing loss was described. Surgical attempts to mobilize the middle-ear bones were unsuccessful because of swelling and augmented growth of the bones in the middle ears. Here the mobilization of the eardrum was not attempted because the middle ear cavities were epidermized. This is the second case in the literature in which a myringotomy was not done because the middle ear was completely epidermized. As a possible alternative, children with osteopathia striata and cranial sclerosis with hearing loss should be fitted with hearing aids because surgery of the middle ear probably will be difficult or perhaps not possible.