Results 101 to 110 of about 40,078 (160)
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Skeletal anomalies and deformities in patients with deletions of 22q11
American Journal of Medical Genetics, 1997Skeletal anomalies in patients with a 22q11.2 deletion are reported infrequently. We report the skeletal findings in 108 patients with a 22q11.2 deletion, of whom 37 (36%) had a skeletal anomaly. Twenty-two patients (20%) had anomalies of the limbs, 7 of the upper limb, including preaxial or postaxial polydactyly. An anomaly of the lower limb was found
Elaine Zackai +2 more
exaly +3 more sources
Clinics in Perinatology, 2000
It is possible to identify many types of skeletal dysplasias and conditions involving limb deformities prenatally using ultrasound. It is likely that in the future, with the advancing technology and discoveries in molecular genetics, specific mutation analysis will become available for many of these conditions.
L, Dugoff, G, Thieme, J C, Hobbins
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It is possible to identify many types of skeletal dysplasias and conditions involving limb deformities prenatally using ultrasound. It is likely that in the future, with the advancing technology and discoveries in molecular genetics, specific mutation analysis will become available for many of these conditions.
L, Dugoff, G, Thieme, J C, Hobbins
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Developmental skeletal anomalies
Birth Defects Research Part C: Embryo Today: Reviews, 2003AbstractA genetic and molecular revolution is taking place in medicine today. Led by the Human Genome Project, genetic information and concepts are changing the way diseases are defined, diagnoses are made, and treatment strategies are developed. The profound implications of actually understanding the molecular abnormalities of many clinical problems ...
Jose A, Morcuende, Stuart L, Weinstein
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Radiologic Clinics of North America, 1990
Skeletal dysplasias are a heterogeneous group of disorders of bone growth resulting in abnormal shape and size of the skeleton. The prenatal diagnosis of these disorders is a particularly challenging task. This article reviews the birth prevalence and classification of skeletal dysplasias and provides an approach to the diagnosis of conditions ...
R, Romero, A P, Athanassiadis, P, Jeanty
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Skeletal dysplasias are a heterogeneous group of disorders of bone growth resulting in abnormal shape and size of the skeleton. The prenatal diagnosis of these disorders is a particularly challenging task. This article reviews the birth prevalence and classification of skeletal dysplasias and provides an approach to the diagnosis of conditions ...
R, Romero, A P, Athanassiadis, P, Jeanty
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Canadian Journal of Animal Science, 1963
Skeletal anomalies, principally of the axial skeleton, occurred with a frequency of 0.28 per cent in a population of 10,683 pigs produced over an 8-year period. These anomalies are described and possible genetic interpretations considered. It was concluded that they were manifestations of metabolic disturbances of non-genetic origin occurring at ...
H. T. Fredeen, Leon Jarmoluk
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Skeletal anomalies, principally of the axial skeleton, occurred with a frequency of 0.28 per cent in a population of 10,683 pigs produced over an 8-year period. These anomalies are described and possible genetic interpretations considered. It was concluded that they were manifestations of metabolic disturbances of non-genetic origin occurring at ...
H. T. Fredeen, Leon Jarmoluk
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TIPS IN DIAGNOSING FETAL SKELETAL ANOMALIES
Obstetrics and Gynecology Clinics of North America, 1998A systematic approach to the prenatal and postnatal evaluation of the patient at risk for fetal skeletal anomalies is outlined. The more common anomalies are described within a differential diagnosis table, and a case study is presented.
O A, Rust, K G, Perry, W E, Roberts
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Multiple skeletal anomalies in the ?13q-? syndrome
European Journal of Pediatrics, 1978A patient with the "13q-" syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta.
J, Chemke +3 more
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Common congenital skeletal anomalies of the thorax
Journal of Thoracic Imaging, 1986Bony anomalies of the thorax may occur as isolated problems, but are also seen in conjunction with other skeletal or organ anomalies. Among the most common thoracic osseous anomalies are pectus excavatum, pectus carinatum, sternal ossification abnormalities, and deformity of the spine, ribs, clavicle, or scapula.
H T, Harcke +3 more
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Phenotypic progression of skeletal anomalies in CLOVES syndrome
American Journal of Medical Genetics Part A, 2012AbstractOvergrowth syndromes, defined as genetic disorders in which there is disproportionate somatic growth, are challenging to diagnose due to their heterogeneous presentations and possible differing genetic etiologies. CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal ...
Steven, Klein +3 more
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Skeletal Anomalies Associated with Unilateral Renal Agenesis
British Journal of Urology, 1987Summary— Unilateral renal agenesis is sometimes associated with skeletal anomalies. The skeletal malformations are easily detectable and, if found, should suggest further urological investigations. The embryological aspect of the association is explored.
N P, Gupta, I B, Gill
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