Results 311 to 320 of about 387,749 (347)
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Best Practice & Research Clinical Endocrinology & Metabolism, 2002
The skeletal dysplasias are a large, heterogeneous group of genetic conditions characterized by abnormal development, growth and maintenance of the elements (bones) that comprise the human skeleton. Many result in disproportionate short stature. The classification of these disorders has evolved over the past 30 years from purely clinical-pathological ...
Ravi Savarirayan, David L. Rimoin
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The skeletal dysplasias are a large, heterogeneous group of genetic conditions characterized by abnormal development, growth and maintenance of the elements (bones) that comprise the human skeleton. Many result in disproportionate short stature. The classification of these disorders has evolved over the past 30 years from purely clinical-pathological ...
Ravi Savarirayan, David L. Rimoin
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European Journal of Pediatrics, 1992
We report on nine patients with craniofrontonasal dysplasia (CFND). Seven classical cases had facial features suggestive of frontonasal dysplasia and coronal craniosynostosis. Extracranial abnormalities such as brittle nails with prominent longitudinal grooves or syndactyly of fingers and toes were observed in individual patients.
B. C. J. Hamel +2 more
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We report on nine patients with craniofrontonasal dysplasia (CFND). Seven classical cases had facial features suggestive of frontonasal dysplasia and coronal craniosynostosis. Extracranial abnormalities such as brittle nails with prominent longitudinal grooves or syndactyly of fingers and toes were observed in individual patients.
B. C. J. Hamel +2 more
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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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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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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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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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