Osteopathia striata with sclerosis and thickening of the skull

Osteopathia striata is a rare bone dysplasia characterized by fine linear striations particularly affecting the metaphyses of the long bones. A case is described in which, in addition, the skull showed sclerosis and thickening of its vault and base. The ribs, spine and pelvis also showed sclerosis but without striations. This case also had an osteochondroma, an association described in two of the ten previously reported cases. A 12-year-old girl had been seen by various specialists because of mild development retardation, dorsiflexion deformity of the toes, nasal obstruction, rhinorrhoea, conductive deafness and dental abnormalities requiring extraction of several teeth. Her father, a 60-year-old ship repairer, her mother, a 45-year-old housewife and her brother were all healthy, as were six paternal and two maternal halfsiblings. Her birth weight was 3.0 kg at term and infancy was uneventful. She was a quiet baby. She walked at 2½ years, began to talk at 5 years and attended a special school for the educ...