Abstract：
:We report a Japanese boy, who is considered as having Patterson-Lowry rhizomelic dysplasia, a rare, as yet undefined, skeletal dysplasia. The diagnosis was warranted by the constellation of skeletal abnormalities - mild platyspondyly, hypoplastic ilia, broad proximal femora with prominent lesser trochanters, mild brachymetacarpalia and, most importantly, rhizomelic shortening of the upper limbs with lateral bowing, medial cortical thickening, and medial metaphyseal notching of the humeri. Our patient, unlike previously reported patients, had respiratory distress and died suddenly of unknown cause in late infancy. Our experience may imply the heterogeneity or phenotypic variability of Patterson-Lowry rhizomelic dysplasia.
journal_name
Pediatr Radioljournal_title
Pediatric radiologyauthors
Kamoda T,Nakajima R,Matsui A,Nishimura Gdoi
10.1007/s002470000401keywords:
subject
Has Abstractpub_date
2001-02-01 00:00:00pages
81-3issue
2eissn
0301-0449issn
1432-1998journal_volume
31pub_type
杂志文章abstract：:An infant with complex cyanotic congenital heart disease was recently encountered whose radiographs seemed to show enhancement of pericardium, peritoneal mesothelium and body wall fascial planes without enhancement of the liver or spleen after very large doses of intravenous contrast. Although patterns of postcontrast...
journal_title：Pediatric radiology
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journal_title：Pediatric radiology
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更新日期：2018-12-01 00:00:00
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更新日期：2008-11-01 00:00:00
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journal_title：Pediatric radiology
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