11/36. A "new" skeletal dysplasia in two unrelated boys.We report on 2 unrelated boys with similar physical and radiographic findings that may represent a "new" skeletal dysplasia. Findings in common include early speech delay, short stature, frontal bossing with a depression over the metopic suture, a narrow nasal root with beaked nose, midfacial hypoplasia with relatively prominent eyes, and brachydactyly with blunt fingers. Radiographic findings include mild irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges with increased distal width, coning and sclerosis of several epiphyses, and overtubulation of the long bones. Although these patients share some manifestations with the floating-harbor syndrome (Robinson et al.: J Pediatr 113:703-706, 1988), their radiographic changes are distinctive and are not suggestive of a recognized skeletal dysplasia syndrome.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
12/36. Idiopathic hyperphosphatasia with dermal pigmentation. A twenty-year follow-up.Hyperphosphatasia, or hereditary bone dysplasia with hyperphosphatasaemia, is a rare genetic disorder which is characterised by failure to transform woven into lamellar bone. Clinical, radiological and histological features establish the diagnosis, fractures, deformities, diffuse sclerosis on radiographs and high serum alkaline phosphatase being characteristic. We report the case of a 27-year-old man with follow-up at the same hospital for 20 years. Attempts at treatment with calcitonin and disocium etidronate (EHDP) failed, but stapling of the growth plates at the knee was successfully performed. Transverse "brittle" fractures of the humerus, lower leg and ribs healed normally, but internal fixation and late bone grafting were required for a subtrochanteric stress fracture of the femur at the age of 24 years. At present the patient has no clinical problems and leads a normal life.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
13/36. Osteopathia striata with cranial sclerosis affecting three family members.Skeletal surveys were performed on a 38-year-old Japanese mother, her son and daughter. The radiographs of both children showed characteristic features of osteopathia striata. However, in the mother, the skull, mandible, and lower extremities were homogeneously sclerotic with no evidence of a striated pattern of sclerosis in her skeleton. Additional features of striated sclerosis of the mandible in patients with osteopathia striata are discussed.- - - - - - - - - - ranking = 6keywords = sclerosis (Clic here for more details about this article) |
14/36. Acroosteolysis. Problems of diagnosis--report of four cases.Four cases of idiopathic acroosteolysis are reported. The first is a common phalangeal type, the second, the Hozay variety. The third case was diagnosed after a mumps infection, and marked regress of the changes was noted in the following years. The fourth case shows skin changes, periostitis, mild osteosclerosis, and skull changes as well as acroosteolysis.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
15/36. The radiological manifestations of metaphyseal dysplasia (Pyle disease).Pyle disease is a rare genetic skeletal disorder which is conventionally classified with craniotubular dysplasias. The radiographic manifestations in three affected adults included widening of the metaphyseal portions of the long bones which extended through a major portion of the diaphyses, with cortical thinning and mild cranial sclerosis. The femora presented the characteristic Erlenmeyer flask configuration. Pyle disease is clinically, radiographically and genetically distinct from craniometaphyseal dysplasia, a relatively common condition with which it has been confused.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
16/36. Osteopathia striata with cranial sclerosis. An autosomal dominant entity.The syndromic association of striae in the long bones and pelvis, together with sclerosis of the base of the skull, has been investigated in four families. Impairment of hearing and alteration in the shape of the head are the most important clinical manifestations. Spinal abnormalities are an inconsistent feature. The distribution of affected individuals in the kindreds is compatible with autosomal dominant inheritance.- - - - - - - - - - ranking = 5keywords = sclerosis (Clic here for more details about this article) |
17/36. Osteopathia striata with cranial sclerosis. Report of a case and review of the literature.This article describes a case of osteopathia striata with cranial sclerosis. The patient also has multiple sclerosis. The symptomatology includes a right sided conduction deafness and a left maxillar nerve deficit, which were both attributed to the bone disorder. The authors review the literature of this rare genetic syndrome and pay special attention to the neurological manifestations. These mainly consist of hearing loss, mental subnormality and occasionally the involvement of other cranial nerves. The bone scan in their patient shows hyperactivity in the left skull base region. This finding provides further evidence that, at least in some instances, the bone disorder has a progressive course.- - - - - - - - - - ranking = 6keywords = sclerosis (Clic here for more details about this article) |
18/36. Lenz-Majewski syndrome.Lenz-Majewski syndrome is a rare disorder of unknown etiology. The condition is characterized by a disproportionately large head with large fontanels and widely separated sutures that close late. The head appears large relative to the reduced size of the trunk and limbs. The skin is loose, wrinkled, and atrophic with prominent veins, especially in the scalp. The ears are large and floppy, and frequently there is choanal atresia or stenosis, nasolacrimal duct obstruction, and, in boys, cryptorchidism and inguinal hernia. The disorder is characterized by failure to thrive and mental retardation. In contrast to craniometaphyseal and craniodiaphyseal dysplasias, the conditions most likely to be mistaken for this disorder, there does not appear to be any impingement on cranial nerves. The skeletal alterations are striking. The radiographic features include progressive sclerosis of the skull, facial bones, and vertebrae; broad clavicles and ribs; short or absent middle phalanges; diaphyseal undermodeling and midshaft cortical thickening; metaphyseal and epiphyseal hypostosis; and retarded skeletal maturation. tooth enamel is also defective.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
19/36. Developmental disorders of the proximal epiphysis of the hallux.The development and developmental variation of the proximal epiphysis of the hallux have been studied in 1,500 children who presented to the Emergency Department with minor injuries. An abnormality was present in 3.5% of the children representing epiphyseal fragmentation, sclerosis, cone-shaped epiphysis, and trauma. Those subjects with developmental anomalies were reviewed clinically and 25% of those with epiphyseal fragmentation were found to be suffering from hallux rigidus. The radiological features and clinical considerations are presented.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
20/36. Craniometaphysial dysplasia with leukoencephalopathy. A case report.A case of craniometaphysial dysplasia with extensive degeneration of the cerebral white matter is presented. The cortex of the swollen part of the long bones was quite thin and there was striking trabecular atrophy. Both the vault and base of the skull showed marked thickening and sclerosis, leaving no interlaminal zone. It is probable that the diffuse degenerative change of the cerebral white matter with gliosis bears some resemblance to that produced by a circulatory disturbance of the great vein of Galen. Due to the narrowed foramen magnum, deformed atlase and axis, and the surrounding postoperative scar, the upper cervical cord was compressed, markedly atrophic and degenerated. Other segments of the cervical and thoracic cord displayed secondary wallerian degeneration and focal neurolytic lesions in the white matter. At the level of Th11 there was a pencil-like malacic lesion, suggesting an apparent interference of circulatory disturbance due possibly to the deformed vertebral column.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
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