Results 361 to 370 of about 522,197 (391)
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Dermatologic Clinics, 1987
In order to be considered an ectodermal dysplasia, a disorder should meet the following criteria: it must be congenital; it must be diffuse (not localized) and must involve the epidermis as well as at least one of its appendages; and it must not be progressive.
Lawrence M. Solomon +2 more
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In order to be considered an ectodermal dysplasia, a disorder should meet the following criteria: it must be congenital; it must be diffuse (not localized) and must involve the epidermis as well as at least one of its appendages; and it must not be progressive.
Lawrence M. Solomon +2 more
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2007
Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 8th Edition is the comprehensive revision of the field-leading reference on bone and mineral health. The eighth edition has been fully revised by the leading researchers and clinicians in the field to provide concise coverage of the widest possible spectrum of metabolic bone ...
Collins M +2 more
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Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 8th Edition is the comprehensive revision of the field-leading reference on bone and mineral health. The eighth edition has been fully revised by the leading researchers and clinicians in the field to provide concise coverage of the widest possible spectrum of metabolic bone ...
Collins M +2 more
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Acromicric dysplasia and geleophysic dysplasia: similarities and differences
European Journal of Pediatrics, 1996We report on a girl with severe growth retardation, characteristic facies, short stubby hands and feet, progressive joint stiffness, mild aortic and mitral valve insufficiency, and normal intelligence. These features are compatible with the diagnosis acromicric dysplasia. The differential diagnosis with Moore-Federman syndrome and geleophysic dysplasia
Y. Van Bever +2 more
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Clinical Orthopaedics and Related Research, 1976
The epiphyseal dysplasias are a group of heterogeneous disorders characterized by defective or excessive bone formation in the secondary ossification centers of the tubular bones and sometimes the vertebrae. Most of them are caused by the defective action of mutant genes. Their pathogenesis is unknown.
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The epiphyseal dysplasias are a group of heterogeneous disorders characterized by defective or excessive bone formation in the secondary ossification centers of the tubular bones and sometimes the vertebrae. Most of them are caused by the defective action of mutant genes. Their pathogenesis is unknown.
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Panostotic Fibrous Dysplasia A New Craniotubular Dysplasia
Clinical Nuclear Medicine, 1992The authors describe the radiographic-scintigraphic features of an unusual craniotubular dysplasia characterized by diffuse osteopenia with bone expansion and a "ground glass" appearance, markedly increased skeletal turnover, myelofibrosis, hypophosphatemia, and pigmented "coast-of-Maine" patches.
Caroline Reinhold +4 more
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Trichoodontoonychial dysplasia—a new meso‐ectodermal dysplasia
American Journal of Medical Genetics, 1983AbstractWe describe a hitherto apparently undescribed ectodermal dysplasia in four siblings. The condition combines severe hypotrichosis, hypoplasia of enamel leading to secondary anodontia, dystrophic nails, supernumerary nipples, nevus pigmentosus, bone deficiency of the fronto‐parietal region, and other anomalies.
Marta Pinheiro +3 more
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Pseudodiastrophic dysplasia: A distinct newborn skeletal dysplasia
The Journal of Pediatrics, 1986Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of clinical, radiographic, and chondro-osseous histopathologic findings. In addition to the rhizomelic shortening of the limbs and severe clubfoot deformity, which suggest the diagnosis of diastrophic dysplasia, distinguishing features are elbow and ...
Giampiero Beluffi +11 more
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European Journal of Cancer, 1995
Lethal carcinomas are still found inadvertently in patients under surveillance; some may not be preceded by conventional dysplasia. However, there is a survival advantage for cancers detected endoscopically rather than symptomatically, and, therefore, by preventing them by colectomy when dysplasia first becomes apparent.
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Lethal carcinomas are still found inadvertently in patients under surveillance; some may not be preceded by conventional dysplasia. However, there is a survival advantage for cancers detected endoscopically rather than symptomatically, and, therefore, by preventing them by colectomy when dysplasia first becomes apparent.
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Journal of the American Academy of Dermatology, 2007
Digitocutaneous dysplasia is a rare X-linked dominant genetic syndrome characterized by multiple digital fibromas, atrophic plaques, dental anomalies, dysmorphic features, and bone anomalies. We report the case of a 2-year-old Mexican girl with this rare condition and discuss the clinical, histologic, and genetic features.
Arash, Izadpanah +4 more
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Digitocutaneous dysplasia is a rare X-linked dominant genetic syndrome characterized by multiple digital fibromas, atrophic plaques, dental anomalies, dysmorphic features, and bone anomalies. We report the case of a 2-year-old Mexican girl with this rare condition and discuss the clinical, histologic, and genetic features.
Arash, Izadpanah +4 more
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Hormone Research in Paediatrics, 2002
<i>Definition:</i> Fibrous dysplasia (FD) of bone is a non-inheritable congenital disorder affecting both genders. It is characterized by expanding fibrous lesions, which contain bone-forming mesenchymal cells. <i>Pathophysiology:</i> FD is caused by a somatic activating mutation of the alpha subunit of the Gs protein (Gsα ...
Eckhard, Schoenau, Frank, Rauch
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<i>Definition:</i> Fibrous dysplasia (FD) of bone is a non-inheritable congenital disorder affecting both genders. It is characterized by expanding fibrous lesions, which contain bone-forming mesenchymal cells. <i>Pathophysiology:</i> FD is caused by a somatic activating mutation of the alpha subunit of the Gs protein (Gsα ...
Eckhard, Schoenau, Frank, Rauch
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