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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。

相似文献

1
Jansen's metaphyseal dysostosis.詹森干骺端发育异常
Pediatrics. 1976 Oct;58(4):556-60.
2
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
Pediatr Radiol. 1987;17(2):119-23. doi: 10.1007/BF02388087.
3
Metaphyseal chondrodysplasia calcificans. A report on two cases.
Br J Radiol. 1971 Oct;44(526):773-9. doi: 10.1259/0007-1285-44-526-773.
4
[Jansen's dysostosis metaphysaria].[詹森干骺端发育异常]
Pol Tyg Lek. 1970 Oct 12;25(41):1545-6.
5
Metaphyseal dysostosis, conductive hearing loss and mental retardation: a recessively inherited syndrome.
Birth Defects Orig Artic Ser. 1971 Mar;07(4):116-22.
6
Lethal short-limbed chondrodysplasia in early infancy.婴儿早期的致死性短肢软骨发育不良。
Perspect Pediatr Pathol. 1976;3:1-40.
7
Metaphyseal dysostosis, Jansen type.干骺端发育不全,詹森型。
J Bone Joint Surg Am. 1973 Apr;55(3):623-9.
8
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia.一名患有詹森干骺端软骨发育不良的儿童出现低磷血症伴血清成纤维细胞生长因子23升高。
J Clin Endocrinol Metab. 2009 Jan;94(1):17-20. doi: 10.1210/jcem.94.2.9988. Epub 2008 Oct 14.
9
Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia.詹森干骺端软骨发育不良中甲状旁腺激素和甲状旁腺激素相关肽的组成性激活受体
N Engl J Med. 1996 Sep 5;335(10):708-14. doi: 10.1056/NEJM199609053351004.
10
Jansen's metaphyseal chondrodysplasia.詹森干骺端软骨发育不良
Indian Pediatr. 2000 Apr;37(4):435-40.

引用本文的文献

1
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.
2
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
Pediatr Radiol. 1987;17(2):119-23. doi: 10.1007/BF02388087.