施瓦茨-扬佩尔综合征的新生儿表现
Neonatal manifestations of Schwartz-Jampel syndrome.
作者信息
Farrell S A, Davidson R G, Thorp P
机构信息
Department of Pediatrics, McMaster University Medical Centre, Hamilton, Ontario, Canada.
出版信息
Am J Med Genet. 1987 Aug;27(4):799-805. doi: 10.1002/ajmg.1320270409.
PMID:3321990
Abstract
Schwartz-Jampel syndrome generally presents in childhood with short stature, limited joint mobility, masklike facies with blepharophimosis, myotonia, and often muscle hypertrophy. Few cases with neonatal manifestations have been described. A newborn with severe manifestations is reported and the literature is reviewed.
摘要
施瓦茨-扬佩尔综合征通常在儿童期出现，表现为身材矮小、关节活动受限、睑裂狭小的面具样面容、肌强直，且常伴有肌肉肥大。仅有少数新生儿期表现的病例被描述过。本文报告了1例有严重表现的新生儿，并对相关文献进行了综述。
相似文献
1
Neonatal manifestations of Schwartz-Jampel syndrome.施瓦茨-扬佩尔综合征的新生儿表现
Am J Med Genet. 1987 Aug;27(4):799-805. doi: 10.1002/ajmg.1320270409.
2
The Schwartz-Jampel syndrome.施瓦茨-扬佩尔综合征
Clin Dysmorphol. 1993 Jan;2(1):47-54.
3
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.施图韦-维德曼综合征的临床同质性以及与2型施瓦茨-扬佩尔综合征的重叠。
Am J Med Genet. 1998 Jun 30;78(2):146-9.
4
Schwartz Jampel syndrome in children.儿童 Schwartz-Jampel 综合征。
J Clin Neurosci. 2013 Feb;20(2):313-7. doi: 10.1016/j.jocn.2012.01.057. Epub 2012 Dec 7.
5
Identical twins with the classical form of Schwartz-Jampel syndrome.
Clin Dysmorphol. 1997 Jan;6(1):45-9.
6
Schwartz-Jampel syndrome with dominant inheritance.显性遗传的施瓦茨-扬佩尔综合征。
Muscle Nerve. 1990 Dec;13(12):1152-63. doi: 10.1002/mus.880131210.
7
Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine.新生儿期诊断施瓦茨-扬佩尔综合征，对卡马西平反应显著。
Pediatr Neurol. 1996 Sep;15(2):172-4. doi: 10.1016/0887-8994(96)00160-9.
8
[Clinical analysis of four patients with Schwartz-Jampel syndrome].
Zhonghua Er Ke Za Zhi. 2012 Mar;50(3):231-4.
9
Schwartz-Jampel syndrome: three pediatric case reports.施瓦茨-扬佩尔综合征：三例儿科病例报告。
Genet Couns. 2003;14(3):353-8.
10
Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.新生儿施瓦茨-扬佩尔综合征：阿联酋一种常见的常染色体隐性综合征。
J Med Genet. 1996 Mar;33(3):203-11. doi: 10.1136/jmg.33.3.203.
引用本文的文献
1
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.软骨营养障碍性肌强直（施瓦茨-扬佩尔综合征）的临床病理发病机制研究及治疗：一例报告
BMC Neurol. 2003 Jul 2;3:3. doi: 10.1186/1471-2377-3-3.
2
Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.施瓦茨-扬佩尔综合征的遗传异质性：两个患有新生儿施瓦茨-扬佩尔综合征的家族并不定位于人类染色体1p34 - p36.1。
J Med Genet. 1997 Aug;34(8):685-7. doi: 10.1136/jmg.34.8.685.
3
Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.新生儿施瓦茨-扬佩尔综合征：阿联酋一种常见的常染色体隐性综合征。
J Med Genet. 1996 Mar;33(3):203-11. doi: 10.1136/jmg.33.3.203.
4
Schwartz-Jampel syndrome (chondrodystrophic myotonia).施瓦茨-扬佩尔综合征（软骨发育不良性肌强直）。
J Med Genet. 1992 Jan;29(1):58-62. doi: 10.1136/jmg.29.1.58.
Zotero 插件