osteochondrodysplasias/höfuðverkur

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GreinarKlínískar rannsóknirEinkaleyfi

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Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis).

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In this paper we report a 7.5-year-old physically normal boy with van Buchem disease (endosteal hyperostosis). Vague complaints of headache were the indication for X-ray examination. At the age of 2 months a left-side peripheral facial nerve palsy suddenly occurred in this boy. Skull X-rays gave

Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

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Schimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SMARCAL1. We report an 8-year-old boy with SIOD and recurrent, severe, refractory migraine-like

Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression.

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BACKGROUND Osteogenesis imperfecta (OI) is an inheritable disorder of bone development caused by defective collagen synthesis. The attendant basilar impression or secondary basilar invagination is uncommon but can be devastating. METHODS Fifty-two patients with osteochondrodysplasia (28 with OI, six

Van Buchem disease: First case report in Taiwan.

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BACKGROUND Van Buchem disease (VBD) is a very rare autosomal recessive disease. According to our review of the relevant literature, this article is the first case report of VBD in Taiwan. UNASSIGNED A 54-year-old woman developed a protruding chin, frontal bossing, and macrocephaly at the age of 40

Decompressive surgery in a patient with hyperostosis corticalis generalisata for relief of cognitive disability and dysaesthesia.

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A 28-year-old man with genetically confirmed hyperostosis corticalis generalisata (Van Buchem disease) suffered from headache and progressive cognitive and sensibility disorders. Bone formation of the skull was ongoing, leading to narrowing of the intracranial space and foramen magnum. A large

Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management.

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Osteogenesis imperfecta (OI) is a heritable disorder of bone development caused by defective collagen synthesis. Basilar invagination is an uncommon but devastating complication of this disease. The authors present a comprehensive strategy for management of craniovertebral anomalies associated with

Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.

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Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. The clinical picture is characterized by spondyloepiphyseal dysplasia resulting in growth failure, nephropathy and T-cell deficiency. Neurologic manifestations

Osteopathia striata with cranial sclerosis: clinical, radiological, and bone histological findings in an adolescent girl.

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Osteopathia striata with cranial sclerosis (OS-CS) is a rare skeletal dysplasia characterized by linear striations of the long bones, osteosclerosis of the cranium, and extra-skeletal anomalies. We provide a comprehensive description of the skeletal phenotype in a French-Canadian girl with a

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases.

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Achondroplasia is the most common of the heritable skeletal dysplasias. Compression at the cervicomedullary junction can result in myelopathy, hypotonia, sleep apnea, and even sudden death. However, most children with achondroplasia do not suffer from severe neurological symptoms and achieve normal

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

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Majewski Osteodysplastic Primordial Dwarfism, Type II (MOPD II) is a rare, autosomal recessive disorder. Features include severe intrauterine growth retardation (IUGR), poor postnatal growth (adult stature approximately 100 cm), severe microcephaly, skeletal dysplasia, characteristic facial

Glucocorticoids are not always deleterious for bone.

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A 23-year-old man with the rare sclerosing bone disorder van Buchem disease presented with progressively worsening headaches that eventually became persistent and associated with papilledema. Increased intracranial pressure was diagnosed, and the patient had a ventriculoperitoneal drain inserted as

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