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先天性长骨弯曲综合征

Syndromes of congenital bowing of the long bones.

作者信息

Kozlowski K, Bützler H O, Galatius-Jensen F, Tulloch A

出版信息

Pediatr Radiol. 1978 Apr 10;7(1):40-8. doi: 10.1007/BF00975337.

DOI:10.1007/BF00975337
PMID:643362
Abstract

Ten patients with congenital bone disease in whom bowing of the long bones was the predominant or only sign are described. The group was composed of three patients with Campomelic dwarfism, one with long bones bowing of Caffey's type, four with femoral bowing (two of them familial), one with bowing of the long bones of the lower limbs and one with bowing of the forearm bones.

摘要

本文描述了10例先天性骨病患者,其长骨弯曲是主要或唯一症状。该组患者包括3例弯肢侏儒症患者、1例患有卡菲型长骨弯曲症的患者、4例股骨弯曲患者(其中2例为家族性)、1例下肢长骨弯曲患者和1例前臂骨弯曲患者。

相似文献

1
Syndromes of congenital bowing of the long bones.先天性长骨弯曲综合征
Pediatr Radiol. 1978 Apr 10;7(1):40-8. doi: 10.1007/BF00975337.
2
Congenital bowing of the long bones. An example of a campomelic syndrome of the short-limbed normocephalic subtype.
Acta Paediatr Scand. 1983 Sep;72(5):789-91. doi: 10.1111/j.1651-2227.1983.tb09816.x.
3
[Campomelic dwarfism. Its placement in the heterogeneous group of congenital bowing of the limbs].
Pediatr Med Chir. 1985 Mar-Apr;7(2):259-70.
4
Familial congenital bowing with short bones.家族性先天性短骨弯曲症。
Radiology. 1979 Sep;132(3):611-4. doi: 10.1148/132.3.611.
5
The "campomelic" syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformities.“弯肢”综合征。寿命短的侏儒症,伴有呼吸窘迫、肌张力减退、特殊面容以及多处骨骼和软骨畸形。
Am J Dis Child. 1972 Oct;124(4):485-96. doi: 10.1001/archpedi.1972.02110160023002.
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.
7
Intrauterine dwarfism, peculiar facies and thin bones with multiple fractures--a new syndrome.宫内发育迟缓、特殊面容及伴有多发骨折的细薄骨骼——一种新综合征
Pediatr Radiol. 1988;18(5):394-8. doi: 10.1007/BF02388044.
8
Heterogeneity in the campomelic syndromes. Long-and short-bone varieties.先天性弯曲综合征的异质性。长骨型和短骨型。
Radiology. 1976 Sep;120(3):641-7. doi: 10.1148/120.3.641.
9
Long-limbed campomelic dwarfism. A radiologic and pathologic study.
Am J Dis Child. 1980 Nov;134(11):1035-42. doi: 10.1001/archpedi.1980.02130230015005.
10
Benign form of congenital angulation of long bones associated with shortening of soft tissues.
Clin Dysmorphol. 1998 Jan;7(1):1-10.

引用本文的文献

1
Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases.
Eur J Pediatr. 1980 Mar;133(2):131-8. doi: 10.1007/BF00441581.
2
Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings.家族性先天性骨骼弯曲伴短粗骨骼和干骺端改变,一种独特的病症。两例同胞患者的临床及影像学表现报告。
Pediatr Radiol. 1984;14(5):323-7. doi: 10.1007/BF01601885.
3
Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories.
Pediatr Radiol. 1987;17(1):50-5. doi: 10.1007/BF02386595.
4

本文引用的文献

1
Prenatal bowing and thickening of tubular bones, with multiple cutaneous dimples in arms and legs; a congenital syndrome of mechanical origin.
Am J Dis Child (1911). 1947 Nov;74(5):543-62. doi: 10.1001/archpedi.1947.02030010557001.
2
Congenital anterior angulation of the tibia.先天性胫骨前弯
Arch Dis Child. 1952 Apr;27(132):179-84. doi: 10.1136/adc.27.132.179.
3
Prenatal bowing and angulation of long bones; a description of its occurrence in a brother and sister.产前长骨弯曲和成角;一对兄妹病例报告
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.伴有严重联合免疫缺陷和股骨弯曲的短身材/短肢骨骼发育不良:两例报告及文献复习
J Med Genet. 1991 Jan;28(1):10-7. doi: 10.1136/jmg.28.1.10.
5
Oto-palato-digital syndrome type II. Report of two related cases.
Pediatr Radiol. 1992;22(4):267-9. doi: 10.1007/BF02019855.
AMA J Dis Child. 1958 Mar;95(3):305-8. doi: 10.1001/archpedi.1958.02060050307013.
4
Congenital bowing and angulation of long bones.先天性长骨弯曲和成角
Pediatrics. 1954 Mar;13(3):257-68.
5
[Prenatal bowing of the long tubular bones].
Z Kinderheilkd. 1967;98(1):63-74. doi: 10.1007/BF00515043.
6
[Bilateral congenital hypoplasia of the cubitus and bilateral calcaneo-cuboidal synostosis in a young girl].[一名年轻女孩的双侧先天性肘部发育不全及双侧跟骰关节融合]
Ann Radiol (Paris). 1965;8(5):389-92.
7
[Morphology of congenital bowing of highs and lower legs].
Helv Paediatr Acta. 1968 Dec;23(6):659-67.
8
[The campomelic syndrome].
Presse Med (1893). 1971 May 22;79(25):1157-62.
9
[Congenital bowing of long bones--occurrence in two sisters].[先天性长骨弯曲——发生于两姐妹]
Z Kinderheilkd. 1971;111(3):184-92.
10
The "campomelic" syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformities.“弯肢”综合征。寿命短的侏儒症,伴有呼吸窘迫、肌张力减退、特殊面容以及多处骨骼和软骨畸形。
Am J Dis Child. 1972 Oct;124(4):485-96. doi: 10.1001/archpedi.1972.02110160023002.