GLOSSARY ENTRY (DERIVED FROM QUESTION BELOW) | ||||||
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05:19 Jun 3, 2009 |
Italian to English translations [PRO] Medical - Medical (general) | |||||||
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| Selected response from: Panagiotis Andrias (X) Greece Local time: 22:04 | ||||||
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Summary of answers provided | ||||
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4 +3 | talar |
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5 | tibio-astragalian joint |
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4 | astragalotibial/tibiotalar [articulation] |
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tibio-astragalian joint Explanation: ... -------------------------------------------------- Note added at 33 minute (2009-06-03 05:52:13 GMT) -------------------------------------------------- Based on two independent personal cases and a pair of sibs from the literature, we delineate a new category of bone dysplasia with cup-shaped large metaphyses, for which the name metaphyseal acroscyphodysplasia is suggested. The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. The radiological aspect of the knees is very specific: the lower femoral and upper tibial epiphyses embed themselves in their metaphyses, which are severely cup-shaped. Premature central epiphyso-metaphyseal fusion and gross deformation, or even coalescence, of the femoral condyles may occur. The femoral diaphyses are very short and broad, and there is progressive coxa valga. Bowed and/or short stubby tibiae with cone-shaped metaphyses, and varus deformity of the tibio-astragalian joint are other features. Slight deformations of the long bones occur in the upper limb. Severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone-shaped epiphyses and irregular, bent and shortened diaphyses are the main signs of hand involvement. Psychomotor retardation is present in 3/4. Autosomal recessive inheritance is likely. PMID: 1860252 [PubMed - indexed for MEDLINE] Related articles Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs. Am J Med Genet A. 2004 Jan 1; 124A(1):60-6. [Am J Med Genet A. 2004] Wedge-shaped epiphyses of the knees in two siblings: a new recessive rare dysplasia? Helv Paediatr Acta. 1984 Oct; 39(4):365-72. [Helv Paediatr Acta. 1984] Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. J Med Genet. 1990 Jul; 27(7):467-71. [J Med Genet. 1990] ReviewDutch variant of Bellini metaphyseal dysplasia: report of two siblings. Australas Radiol. 1995 Aug; 39(3):282-6. [Australas Radiol. 1995] ReviewCartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature. Am J Med Genet. 1991 Dec 1; 41(3):371-80. [Am J Med Genet. 1991] » See reviews... | » See all... Cited by 1 PubMed Central article See the 1 free full-text article in PubMed Central that has cited this article. |
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talar Explanation: tibiotalar joint |
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