一种新的可能为常染色体隐性遗传的伴有中轴性多指（趾）畸形的心脏肢体发育不良。
A new probably autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly.
作者信息
Martínez y Martínez R, Corona-Rivera E, Jiménez-Martínez M, Ocampo-Campos R, García-Maravilla S, Cantú J M
出版信息
J Med Genet. 1981 Apr;18(2):151-4. doi: 10.1136/jmg.18.2.151.
Abstract
A distinct probably autosomal recessive syndrome was ascertained in a 17-year-old boy and his deceased sister. The main features were cardiac dysplasia, peculiar facies, central bilateral (mesoaxial) hexadactyly, synmetacarpalia, short stature, ocular torticollis, and delayed puberty.
摘要
在一名17岁男孩及其已故姐姐身上确诊了一种独特的、可能为常染色体隐性遗传的综合征。主要特征包括心脏发育异常、特殊面容、双侧中央（中轴）多指（趾）畸形、并掌、身材矮小、眼性斜颈和青春期延迟。
相似文献
1
A new probably autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly.一种新的可能为常染色体隐性遗传的伴有中轴性多指（趾）畸形的心脏肢体发育不良。
J Med Genet. 1981 Apr;18(2):151-4. doi: 10.1136/jmg.18.2.151.
2
VACTERL with hydrocephalus: a further case with probable autosomal recessive inheritance.伴有脑积水的VACTERL综合征：又一例可能为常染色体隐性遗传的病例。
Am J Med Genet. 1994 Jan 1;49(1):137-8. doi: 10.1002/ajmg.1320490133.
3
New manifestations in an infant with Neu Laxova syndrome.一名患有Neu Laxova综合征的婴儿出现的新症状。
Am J Med Genet. 1995 Mar 27;56(2):239-40. doi: 10.1002/ajmg.1320560225.
4
Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?两例同胞患唇腭裂、特殊面容、肠旋转不良和致命性先天性心脏病：一种新的常染色体隐性遗传病？
Am J Med Genet. 1996 Mar 1;62(1):58-60. doi: 10.1002/(SICI)1096-8628(19960301)62:1<58::AID-AJMG12>3.0.CO;2-U.
5
[Characteristics of Holt-Oram syndrome].[ Holt-Oram综合征的特征]
Ter Arkh. 1987;59(4):135-6.
6
PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.PHAVER综合征：一种常染色体隐性遗传综合征，表现为肢体翼状胬肉、先天性心脏异常、脊柱缺陷、耳部异常和桡骨缺陷。
Am J Med Genet. 1993 Nov 1;47(6):807-11. doi: 10.1002/ajmg.1320470602.
7
[Cardiomelic syndrome].[心肢综合征]
Beitr Orthop Traumatol. 1979 Mar;26(3):122-31.
8
Holt-Oram syndrome (analysis of six cases).霍尔特-奥勒姆综合征（6例分析）
Turk J Pediatr. 1980 Jul-Oct;22(3-4):50-8.
9
Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.致死性面部心脏肢体发育不全——一种新的常染色体隐性疾病。
Birth Defects Orig Artic Ser. 1975;11(5):91-8.
10
[Deformities of the extremities in Holt-Oram syndrome].[霍尔-奥姆综合征中的肢体畸形]
Z Orthop Ihre Grenzgeb. 1971 May;109(2):270-6.
引用本文的文献
1
Unusual hand malformations with cardiac defects--a variant of heart--hand syndrome IV.
Indian J Pediatr. 2000 May;67(5):392-4. doi: 10.1007/BF02820700.
本文引用的文献
1
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.阿米什人中的侏儒症。一、埃利斯-范克里弗德综合征。
Bull Johns Hopkins Hosp. 1964 Oct;115:306-36.
2
Upper limb-cardiovascular syndromes: a description of two new disorders with a classification.上肢-心血管综合征：两种新疾病的描述及分类
Chest. 1974 Jun;65(6):632-9. doi: 10.1378/chest.65.6.632.
Zotero 插件