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Familial X-linked unilateral carpal hypoplasia/dysplasia--a new syndrome. Report of four cases.

作者信息

Kozlowski K, Pietron K

机构信息

Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.

出版信息

Pediatr Radiol. 1989;19(4):261-2. doi: 10.1007/BF02386849.

DOI:10.1007/BF02386849
PMID:2748236
Abstract

Four boys with congenital hypoplastic/dysplastic carpal changes are reported. In 3 patients the right carpus and in 1 patient the left carpus was involved. Two other males, not examined, in two previous generations were also probably affected. No females in the family are known to have the disease. Unilateral involvement, absence of progress of the changes with age and type of inheritance allows us to designate the abnormality as a new, X-linked syndrome.

摘要

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本文引用的文献

1
[Neurogenic ulcerating acropathy (acroosteolysis syndrome)].
Monatsschr Kinderheilkd (1902). 1971 May;119(5):169-75.
2
Unilateral carpal bone deformity in mother and son.
Am J Med Genet. 1987 Mar;26(3):557-63. doi: 10.1002/ajmg.1320260308.
3
Acroosteolysis. Problems of diagnosis--report of four cases.肢端骨质溶解症。诊断问题——四例报告
Pediatr Radiol. 1979 Apr 19;8(2):79-86. doi: 10.1007/BF00973996.