Familial osteosclerosis with abnormalities of the nervous system and meninges.
A mother and daughter with osteosclerotic dysplasia are described. The daughter had generalized osteosclerosis, flattening of the angles of the mandibles, high-arched palate, mandibular and facial bone hypoplasia, a large sella turcica, and spacious foramen magnum, platybasia, basilar impression, widened spinal cord with enlarged intervertebral foramina, and scalloping of the posterior surfaces of the vertebral bodies. Radiographic contrast studies and operative intervention revealed multiple thoracic and lumbar meningoceles and an "empty" sella, as well as evidence of maldevelopment of the spinal cord, cerebellum, and cerebral cortex. Many of these skeletal features were noted to a lesser degree in the asymptomatic mother.
D000015:Abnormalities, Multiple; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis; D008578:Meninges / Q000002:abnormalities; D009421:Nervous System Malformations; D010026:Osteosclerosis / Q000235:genetics*; D013577:Syndrome