马歇尔综合征和韦弗综合征
The syndromes of Marshall and Weaver.
作者信息
Fitch N
出版信息
J Med Genet. 1980 Jun;17(3):174-8. doi: 10.1136/jmg.17.3.174.
Abstract
Several investigators have suggested that the Marshall syndrome and the Weaver syndrome are one entity because of some phenotypic overlap. This paper reviews the findings in nine additional patients with the Marshall syndrome and concludes that the syndromes are two distinct entities. In the Marshall syndrome there is a characteristic facies, failure to thrive in terms of height, weight, and psychomotor development, and early death. In the Weaver syndome the infants thrive too well: weight and heights are much above normal. They also have increased bifrontal diameters, hypertonia, prominent finger pads, and thin, deep-set nails, and the face is quite different from the Marshall facies.
摘要
几位研究者认为，由于某些表型重叠，马歇尔综合征和韦弗综合征是同一病症。本文回顾了另外9例马歇尔综合征患者的研究结果，并得出结论：这两种综合征是两种不同的病症。马歇尔综合征有其特征性面容，在身高、体重和精神运动发育方面生长发育迟缓，且早夭。在韦弗综合征中，婴儿生长发育过好：体重和身高远高于正常水平。他们还伴有双额径增加、张力亢进、指腹突出以及指甲薄且深陷，其面容与马歇尔面容截然不同。
相似文献
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The syndromes of Marshall and Weaver.马歇尔综合征和韦弗综合征
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J Med Genet. 1994 Jan;31(1):20-32. doi: 10.1136/jmg.31.1.20.
5
The Weaver syndrome in a girl.一名女孩患韦弗综合征。
Eur J Pediatr. 1983 Oct;141(1):58-9. doi: 10.1007/BF00445673.
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A girl with the Weaver syndrome.一名患有韦弗综合征的女孩。
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Weaver syndrome.韦弗综合征
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本文引用的文献
1
Accelerated skeletal maturation in infancy syndrome: report of a third case.婴儿期骨骼成熟加速综合征：第三例报告
J Pediatr. 1973 Nov;83(5):829-32. doi: 10.1016/s0022-3476(73)80379-8.
2
Letter: Optimal antibiotic and antitoxin treatment of tetanus?信件：破伤风的最佳抗生素和抗毒素治疗？
J Pediatr. 1974 Oct;85(4):583-5. doi: 10.1016/s0022-3476(74)80485-3.
3
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.一种新的过度生长综合征，伴有骨骼成熟加速、特殊面容和屈曲指。
J Pediatr. 1974 Apr;84(4):547-52. doi: 10.1016/s0022-3476(74)80675-x.
4
Syndrome of accelerated skeletal maturation in infancy, peculiar facies, and multiple congenital anomalies.婴儿期骨骼成熟加速综合征、特殊面容及多发先天性异常。
J Pediatr. 1974 Apr;84(4):553-6. doi: 10.1016/s0022-3476(74)80677-3.
5
[A recent case of accelerated bone development and somato-mental retardation].[近期一例骨骼发育加速与身心发育迟缓病例]
Orv Hetil. 1973 Nov 18;114(46):2782-5.
6
Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder.
J Pediatr. 1971 Jan;78(1):95-101. doi: 10.1016/s0022-3476(71)80269-x.
7
[Unusual syndrome with acceleration of skeletal maturation (Marshall's syndrome). 1st case in the Italian literature].[伴有骨骼成熟加速的罕见综合征（马歇尔综合征）。意大利文献中的首例病例]
Minerva Pediatr. 1976 Jul 28;28(24):1499-509.
8
The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations. (The so-called Marshall-Smith syndrome).
Pediatr Radiol. 1976 Oct 26;5(1):53-7. doi: 10.1007/BF00988665.
9
Accelerated skeletal maturation syndrome with pulmonary hypertension.伴有肺动脉高压的骨骼成熟加速综合征
Birth Defects Orig Artic Ser. 1976;12(5):209-17.
10
Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges.马歇尔-史密斯综合征，具有双额径增大、股骨远端宽阔、手指屈曲畸形且无中节指骨宽阔。
J Pediatr. 1979 Jan;94(1):93-5. doi: 10.1016/s0022-3476(79)80366-2.
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