詹森干骺端发育异常
Jansen's metaphyseal dysostosis.
作者信息
Gordon S L, Varano L A, Alandete A, Maisels M J
出版信息
Pediatrics. 1976 Oct;58(4):556-60.
PMID:972797
Abstract
A case of Jansen's metaphyseal dysostosis, a rare disorder of endochondral ossification, is described. This is the first case in which the severe radiographic manifestations of this disease were detected at birth. Linear growth is significantly retarded at 2 years of age. Nevertheless, because full ossification with trabeculae is anticipated, early recognition and appropriate management during the phase of active growth should minimize deformities.
摘要
本文描述了一例詹森干骺端发育不良病例，这是一种罕见的软骨内成骨障碍疾病。这是首例在出生时就检测到该疾病严重影像学表现的病例。患儿在2岁时线性生长明显迟缓。然而，鉴于预计会出现带有小梁的完全骨化，在生长活跃阶段的早期识别和适当管理应能将畸形程度降至最低。
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Calcium metabolism in the Jansen type of metaphyseal dysplasia.詹森型干骺端发育不良中的钙代谢
Eur J Pediatr. 1993 Nov;152(11):912-5. doi: 10.1007/BF01957529.
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Murk Jansen's metaphyseal chondrodysplasia with long-term followup.默克·扬森干骺端软骨发育不良的长期随访
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