Results 341 to 350 of about 367,278 (369)
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Thoracic Dysplasia in Spondyloepiphyseal Dysplasia Congenita
Archives of Pediatrics & Adolescent Medicine, 1977Spondyloepiphyseal dysplasia congenita (SED congenita) can involve the ribs. The result is rib shortening, a dysplastic thorax that is not only short but also narrowed, and respiratory failure. This case involves an infant who died of respiratory failure 36 hours after birth.
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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
Raoul C. M. Hennekam +4 more
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American Journal of Medical Genetics, 1995
AbstractWe present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end‐plate indentations) and brachydactyly. Our patient also manifested a characteristic “pugilistic” face, sensorineural deafness and mental retardation.
SORGE G, RUGGIERI, MARTINO, LACHMAN RS
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AbstractWe present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end‐plate indentations) and brachydactyly. Our patient also manifested a characteristic “pugilistic” face, sensorineural deafness and mental retardation.
SORGE G, RUGGIERI, MARTINO, LACHMAN RS
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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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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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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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