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[出生后发育加速、张力亢进、中指骨及股骨远端干骺端增大、特殊面容:韦弗综合征一例?]

[Acceleration of postnatal development, hypertony, enlargement of the middle phalanges and of the distal metaphyses of the femur, peculiar facies: a case of Weaver's syndrome?].

作者信息

Bosch-Banyeras J M, Salcedo S, Lucaya J, Laverde R, Boronat M, Marti-Henneberg C

出版信息

Arch Fr Pediatr. 1978 Feb;35(2):177-83.

PMID:637674
Abstract

A child is described with accelerated bone maturation, large dysplastic ears, and hypertelorism. These are features of both the Marshall-Smith and Weaver's syndrome. The child was mentally retarded and had enlargement of the middle phalanges, features only seen in Marshall-Smith syndrome. However, there was also enlargement of the metaphyses, a characteristic of Weaver's syndrome. The possiblity that these syndromes may represent different manifestations of the same entity is discussed.

摘要

描述了一名患有骨骼成熟加速、耳朵发育异常大以及眼距过宽的儿童。这些都是马歇尔-史密斯综合征和韦弗综合征的特征。该儿童智力发育迟缓,中指骨增大,这是仅在马歇尔-史密斯综合征中出现的特征。然而,干骺端也有增大,这是韦弗综合征的一个特征。文中讨论了这些综合征可能代表同一实体的不同表现形式的可能性。

相似文献

1
[Acceleration of postnatal development, hypertony, enlargement of the middle phalanges and of the distal metaphyses of the femur, peculiar facies: a case of Weaver's syndrome?].[出生后发育加速、张力亢进、中指骨及股骨远端干骺端增大、特殊面容:韦弗综合征一例?]
Arch Fr Pediatr. 1978 Feb;35(2):177-83.
2
[Weaver's syndrome. Apropos of a new case].[韦弗综合征。关于一例新病例]
Ann Pediatr (Paris). 1990 May;37(5):327-30.
3
The syndrome of multisynostotic osteodysgenesis with long-bone fractures.伴有长骨骨折的多关节骨性发育不全综合征
Am J Med Genet. 1980;7(3):391-403. doi: 10.1002/ajmg.1320070322.
4
[Weaver syndrome. 1st case reported in Venezuela].[韦弗综合征。委内瑞拉首例报告病例]
Invest Clin. 1997 Mar;38(1):9-24.
5
[Experiences and results of surgical interventions during the growth period].
Fortschr Kiefer Gesichtschir. 1976;21:37-41.
6
Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations.马歇尔-史密斯综合征:两例病例报告及肺部表现综述
Pediatrics. 1983 Feb;71(2):219-23.
7
[Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)].[两名同胞出现骨成熟加速和畸形综合征(马歇尔-韦弗综合征)]
J Genet Hum. 1983 Dec;31 Suppl 5:385-95.
8
Weaver's syndrome--primordial excessive growth velocity. A case report.韦弗综合征——原发性生长速度过快。病例报告。
S Afr Med J. 1985 Apr 20;67(16):646-8.
9
The G syndrome: a case report.
Am J Med Genet. 1979;3(1):59-64. doi: 10.1002/ajmg.1320030111.
10
[Aarskog's genito-digito-facial syndrome].
Bull Soc Ophtalmol Fr. 1976 Nov;76(11):981-5.

引用本文的文献

1
Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie.同胞中儿童期起病的常染色体显性多囊肾病:临床表现及复发风险。德国儿科肾脏病工作组(儿科肾脏病协作组)
J Med Genet. 1993 Jul;30(7):583-8. doi: 10.1136/jmg.30.7.583.
2
The syndromes of Marshall and Weaver.马歇尔综合征和韦弗综合征
J Med Genet. 1980 Jun;17(3):174-8. doi: 10.1136/jmg.17.3.174.
3
Accelerated bone maturation syndrome of the Weaver type.
韦弗型骨成熟加速综合征
Eur J Pediatr. 1981 Nov;137(3):329-33. doi: 10.1007/BF00443267.
4
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.
5
A girl with the Weaver syndrome.一名患有韦弗综合征的女孩。
J Med Genet. 1987 Apr;24(4):232-4. doi: 10.1136/jmg.24.4.232.
6
Weaver syndrome.韦弗综合征
J Med Genet. 1992 May;29(5):332-7. doi: 10.1136/jmg.29.5.332.