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Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.

作者信息

Kunze J, Klemm T

出版信息

Eur J Pediatr. 1980 Sep;134(3):269-72. doi: 10.1007/BF00441485.

DOI:10.1007/BF00441485
PMID:7428776
Abstract

Both parents of a female infant with mesomelic dysplasia, type Langer, showed signs of dyschondrosteosis. This further observation suggests that this type of mesomelic dysplasia may be due to homozygosity for the autosomal dominant gene of dyschondrosteosis.

摘要

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Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.
Eur J Pediatr. 1980 Sep;134(3):269-72. doi: 10.1007/BF00441485.
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本文引用的文献

1
DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES.软骨发育不全症，一种具有特征性X线表现的可遗传性骨发育异常。
Am J Roentgenol Radium Ther Nucl Med. 1965 Sep;95:178-88. doi: 10.2214/ajr.95.1.178.
2
AN UNUSUAL SYMMETRICAL DISTAL LIMB DEFORMITY IN SIBLINGS.兄弟姐妹中出现的一种罕见的对称性远端肢体畸形。
J Bone Joint Surg Br. 1963 Nov;45(4):745-7.
3
Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.尺骨、腓骨、下颌骨发育不全型的中肢侏儒症。
Radiology. 1967 Oct;89(4):654-60. doi: 10.1148/89.4.654.
4
Madelung's deformity. A clinical and cytogenetic study.马德隆畸形。一项临床与细胞遗传学研究。
J Bone Joint Surg Br. 1967 Feb;49(1):66-73.
5
Dyschondrosteosis. The most common cause of Madelung's deformity.软骨发育不全。马德隆畸形最常见的病因。
J Pediatr. 1966 Mar;68(3):432-41. doi: 10.1016/s0022-3476(66)80247-0.
6
Dyschondrosteose. Mesomelic dwarfism of Lwei and Weill.软骨发育不全性骨肥厚。勒维和韦尔的中肢侏儒症。
Am J Dis Child. 1970 Oct;120(4):329-31.
7
Madelung's deformity: observations in 17 patients.马德隆畸形：17例患者的观察结果
Radiology. 1969 Nov;93(5):1037-42. doi: 10.1148/93.5.1037.
8
Dyschondrosteosis.骨干续连症
Acta Radiol Diagn (Stockh). 1971 Sep;11(5):459-66. doi: 10.1177/028418517101100502.
9
Dyschondrosteosis. A Mexican family with two affected males.
Clin Genet. 1972;3(3):154-7. doi: 10.1111/j.1399-0004.1972.tb01452.x.
10
Dyschondrosteosis (mesomelic dwarfism)--a family study.先天性软骨发育不全（中肢侏儒症）——一项家族研究。
Br J Radiol. 1974 Oct;47(562):634-40. doi: 10.1259/0007-1285-47-562-634.