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A family with diaphyseal aclasis and peripheral dysostosis.

作者信息

Brooks A P, Wynne-Davies R

出版信息

J Med Genet. 1980 Aug;17(4):277-80. doi: 10.1136/jmg.17.4.277.

DOI:10.1136/jmg.17.4.277
PMID:7205902
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048569/
Abstract

Autosomal dominant inheritance of a type of peripheral dysostosis occurred in a family with diaphyseal aclasis. The features of their type of peripheral dysostosis were short limbed short stature, normal intelligence, very stubby fingers, flat face and nose, shortened metacarpals and terminal phalanges, thickened beaten-copper skull vault, and advanced skeletal maturation.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37fe/1048569/ee31bdc8ef67/jmedgene00126-0036-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37fe/1048569/e21af8d8ebb9/jmedgene00126-0034-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37fe/1048569/47def2c09059/jmedgene00126-0035-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37fe/1048569/109acfd00104/jmedgene00126-0035-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37fe/1048569/ee31bdc8ef67/jmedgene00126-0036-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37fe/1048569/e21af8d8ebb9/jmedgene00126-0034-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37fe/1048569/47def2c09059/jmedgene00126-0035-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37fe/1048569/109acfd00104/jmedgene00126-0035-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37fe/1048569/ee31bdc8ef67/jmedgene00126-0036-a.jpg

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本文引用的文献

1
Bone growth in diaphysial aclasis.骨干发育异常中的骨生长
J Bone Joint Surg Br. 1961 Nov;43-B:700-16. doi: 10.1302/0301-620X.43B4.700.
2
Shelf operation in congenital dysplasia of the acetabulum and in subluxation and dislocation of the hip.髋臼先天性发育不良及髋关节半脱位和脱位的髋臼加盖手术
J Bone Joint Surg Am. 1953 Jan;35-A(1):65-80.
3
Hereditary peripheral dysostosis (three cases).遗传性周围性骨发育不全（3例）
Proc R Soc Med. 1967 Jan;60(1):21-2. doi: 10.1177/003591576706000112.
4
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.肢端发育不全症。一种外周性骨发育不全、鼻发育不全和智力迟钝的综合征。
Am J Dis Child. 1971 Mar;121(3):195-203.
5
Acetabular dysplasia and familial joint laxity: two etiological factors in congenital dislocation of the hip. A review of 589 patients and their families.髋臼发育不良与家族性关节松弛：先天性髋关节脱位的两个病因。对589例患者及其家族的回顾。
J Bone Joint Surg Br. 1970 Nov;52(4):704-16.
6
Acromesomelic dwarfism: manifestations in childhood.肢端中胚层发育不全性侏儒症：儿童期表现
Am J Med Genet. 1977;1(1):87-100. doi: 10.1002/ajmg.1320010110.