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11/31. Severe, atypical form of dyschondrosteosis (report of two cases).

    We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondrosteosis) (OMIM 127300), that of the lower extremities is consistent with Langer mesomelic dysplasia (OMIM 249700). Molecular studies showed a heterozygous short stature homeobox gene ( SHOX)deletion in both patients. A second genetic defect in the other SHOX allele was not found. Conclusion:Our study broadens the phenotypic spectrum associated with short stature homeobox gene functional haploinsufficiency.
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ranking = 1
keywords = dysplasia, defect
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12/31. ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

    We describe two children with multiple abnormalities, neither of whom fits neatly into a classical diagnostic category, but who show overlapping features of ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia. It seems possible that these three entities form part of a disease spectrum rather than being distinct conditions.
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ranking = 2.4987086388659
keywords = dysplasia
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13/31. Chondroectodermal dysplasia (ellis-van creveld syndrome): report of two cases.

    Our two patients with chondroectodermal dysplasia had most of the classic manifestations of the syndrome. The simultaneous occurrence of partial anodontia and embedded supernumerary and second premolars in the mandible in one patient was interesting. The inverted impaction of the left maxillary lateral incisor is also a unique finding. The median fissure on the tongue may be an associated developmental anomaly of the syndrome.
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ranking = 55.923742487408
keywords = ectodermal dysplasia, dysplasia
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14/31. ellis-van creveld syndrome, (chondroectodermal dysplasia syndrome) in a Gurkha family.

    The first reported case of Ellis--van Creveld syndrome in a Gurkha child is described, and the implications of the syndrome in this ethnic group are briefly considered.
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ranking = 44.738993989926
keywords = ectodermal dysplasia, dysplasia
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15/31. Ultrasonic demonstration of fetal skeletal dysplasia. case reports.

    Reports on prenatal diagnosis in cases of skeletal dysplasia have mostly been in high-risk mothers with a suspect genetic background where the fetal lesion could probably be predetermined. We deal with routine ultrasonographic appraisal of the fetal skeleton when dysplasia is not initially suspected, and relate our experience of the lethal forms of this condition. During the 4-year period 1981-1984, 6 cases of skeletal dysplasia, including thanatophoric dysplasia, achondrogenesis, the ellis-van creveld syndrome (chondro-ectodermal dysplasia) and osteogenesis imperfecta, were detected; the ultrasonographic findings are discussed.
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ranking = 15.182682319667
keywords = ectodermal dysplasia, dysplasia
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16/31. prenatal diagnosis of chondroectodermal dysplasia with fetoscopy.

    Chondroectodermal dysplasia (ellis-van creveld syndrome) has previously been diagnosed prenatally only once, using fetoscopy. We report on two consecutive pregnancies in a woman at risk of having a child with the syndrome during which fetoscopic visualization was performed. ellis-van creveld syndrome was diagnosed prenatally in one instance, while it could be excluded in the other one. Non-invasive prenatal diagnosis of the syndrome is discussed.
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ranking = 55.923742487408
keywords = ectodermal dysplasia, dysplasia
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17/31. The extra digit. A pointer to the eye?

    The syndrome associated with an extra digit which is commonly seen by the ophthalmologist is that of Laurence-moon-Biedl, with its well-known association with retinal dystrophy. However, there are several other syndromes in which there is polydactyly and an ocular malformation. Many have colobomata and microphthalmos. Other syndromes show various orbital and eyelid abnormalities, such as ptosis, hypertelorism, and lateral displacement of the canthi. In three syndromes other than the Laurence-moon-Biedl there is a retinal dystrophy. In trisomy 13 there is a severe retinal dysplasia, and in Bloom's syndrome excrescences on Bruch's membrane have been described. There have been several cases of asphyxiating thoracic dystrophy (Jeune's syndrome) described with a retinal dystrophy, and we present a case of the closely-related ellis-van creveld syndrome with a retinal dystrophy. We also present a case with a chromosomal defect (an addition to the short arm of chromosome 2), polydactyly, and a retinal dystrophy.
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ranking = 0.50025827222683
keywords = dysplasia, defect
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18/31. Brief clinical report: chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract.

    We report on a 19-month-old girl with chondroectodermal dysplasia (Ellis-van Creveld) and other previously undescribed visceral and central nervous system anomalies. These anomalies include cerebral heterotopias, renal agenesis, and congenital megaureter.
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ranking = 55.923742487408
keywords = ectodermal dysplasia, dysplasia
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19/31. Chondroectodermal dysplasia (Ellis--van Creveld syndrome) with dysplasia of renal medulla and bile ducts.

    A case of a 28-month-old boy with chondroectodermal dysplasia (Ellis-van Creveld syndrome) is reported. Besides polydactyly, ectodermal dysplasia, acromelic dwarfism and congenital heart defect, which are characteristic morphologic features of the syndrome, additional dysplastic developmental defects were discovered in the kidneys, liver, and lungs. Detailed histopathologic studies of the growth plates of tibia, femur and ribs disclosed an irregular, partly hyperplastic, partly dystrophic appearance of the epiphyseal cartilage, which was not resorbed properly by the invading blood vessels. Focal areas of necrosis occurred and barriers of tongue-shaped cartilaginous peninsulas persisted. Regular enchondral ossification was hindered and compensatory membrane ossification was found in the fibrosing metaphyseal bone marrow adjacent to the cartilage. Dysplasia and fibrosis of the renal medulla plus interstitial fibrosing nephritis in the cortex resulted in kidney contraction and renal failure. hepatomegaly, portal fibrosis and bile duct hyperplasia and dysplasia were detected at autopsy, but did not have any clinical significance. These findings once again emphasize that derivatives of all three germ layers are involved in the ellis-van creveld syndrome. The possibility that a single metabolic or structural abnormality of the mesenchymal tissues could be responsible for the various organ dysplasias is discussed.
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ranking = 70.107974440436
keywords = ectodermal dysplasia, dysplasia, defect
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20/31. Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.

    We describe a 5-year-old Japanese boy who has some radiographic findings characteristic of asphyxiating thoracic dystrophy (ATD)-chondroectodermal dysplasia with a de novo chromosome abnormality. He also has mild mental retardation, short stature, hypoplastic hair and skin, oligodontia, small thoracic cage, hypoplastic pelvis and cone-shaped epiphyses of hands. On cytogenetic studies he was found to have a de novo del(12)(p11.21p12.2). These results suggest that the locus of the gene associated with ATD-chondroectodermal dysplasia may be situated at 12p11.21p12.2.
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ranking = 56.423484215181
keywords = ectodermal dysplasia, dysplasia
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