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腭裂与食指副掌骨综合征:可能的家族性发病情况。

Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence.

作者信息

Gewitz M, Dinwiddie R, Yuille T, Hill F, Carter C O

出版信息

J Med Genet. 1978 Apr;15(2):162-4. doi: 10.1136/jmg.15.2.162.

DOI:10.1136/jmg.15.2.162
PMID:641955
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013670/
Abstract

A case of cleft palate and accessory metacarpal of index finger syndrome is described and related to the presence of Pierre Robin syndrome in a stillborn sibling. The significance of this relationship is discussed.

摘要

本文描述了一例腭裂合并食指副掌骨综合征的病例,并与一名死产同胞中存在的皮埃尔·罗宾综合征相关。讨论了这种关系的意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f1e/1013670/9ada0db28d7b/jmedgene00297-0079-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f1e/1013670/09633811f5e0/jmedgene00297-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f1e/1013670/9ada0db28d7b/jmedgene00297-0079-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f1e/1013670/09633811f5e0/jmedgene00297-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f1e/1013670/9ada0db28d7b/jmedgene00297-0079-b.jpg

相似文献

1
Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence.腭裂与食指副掌骨综合征:可能的家族性发病情况。
J Med Genet. 1978 Apr;15(2):162-4. doi: 10.1136/jmg.15.2.162.
2
Skeletal anomalies in genetically determined congenital heart disease.
Radiol Clin North Am. 1971 Dec;9(3):435-58.
3
Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome.
Clin Genet. 1986 Feb;29(2):168-73. doi: 10.1111/j.1399-0004.1986.tb01244.x.
4
Bilateral renal agenesis with Potter phenotype, cleft palate, anomalies of the cardiovascular system, skeletal anomalies including hexadactyly and bifid metacarpal. A new syndrome?
Am J Med Genet. 1984 May;18(1):177-82. doi: 10.1002/ajmg.1320180122.
5
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.表现为常染色体显性遗传腭裂和失明的斯-利二氏综合征。
J Med Genet. 1975 Dec;12(4):397-400. doi: 10.1136/jmg.12.4.397.
6
Twins with Pierre Robin syndrome.患有皮埃尔·罗宾综合征的双胞胎。
Birth Defects Orig Artic Ser. 1971 Jun;7(7):72-5.
7
Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: a possible new palato-digital syndrome.伴有食指多指并指畸形的皮埃尔·罗宾综合征:一种可能的新型腭指综合征
Pediatr Radiol. 1977 Oct 28;6(3):178-80. doi: 10.1007/BF00972113.
8
Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature.
Clin Genet. 1982 Jun;21(6):407-10. doi: 10.1111/j.1399-0004.1982.tb01395.x.
9
Catel-Manzke syndrome: two new patients and a critical review of the literature.卡特-曼兹克综合征:两例新病例及文献综述
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The prevalence of congenital heart disease among the population of a metropolitan cleft lip and palate clinic.某大城市唇腭裂诊所人群中先天性心脏病的患病率。
Cleft Palate J. 1981 Jan;18(1):19-23.

引用本文的文献

1
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.TGDS 中的纯合子和复合杂合突变导致 Catel-Manzke 综合征。
Am J Hum Genet. 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004.
2
A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton.一种伴有心脏、面部和骨骼相关异常的指腭综合征。
J Med Genet. 1980 Jun;17(3):238-42. doi: 10.1136/jmg.17.3.238.
3
Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome).皮埃尔·罗宾序列征与多指(趾)畸形——一种遗传实体(卡特 - 曼兹克综合征)。

本文引用的文献

1
[Symmetrical hyperphalangy of the second finger by a supplementary metacarpus bone].
Fortschr Geb Rontgenstr Nuklearmed. 1966 Sep;105(3):425-7.
2
Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect.
Am J Dis Child. 1970 Feb;119(2):176-8.
3
[The Pierre Robin syndrome: unusual associated developmental defects].[皮埃尔·罗宾综合征:不寻常的相关发育缺陷]
Ann Radiol (Paris). 1972 Mar-Apr;15(3):253-62.
4
Eur J Pediatr. 1984 Aug;142(3):222-3. doi: 10.1007/BF00442455.
4
A male infant with the Catel-Manzke syndrome and dislocatable knees.一名患有卡特-曼兹克综合征且膝盖可脱位的男婴。
J Med Genet. 1986 Jun;23(3):271-4. doi: 10.1136/jmg.23.3.271.
Glossoptotic hypoxia and micrognathia--the Pierre Robin syndrome reviewed. Early recognition and prompt surgical treatment is important for survival.舌后坠性缺氧和小颌畸形——Pierre Robin综合征综述。早期识别和及时手术治疗对生存至关重要。
Clin Pediatr (Phila). 1971 Oct;10(10):600-6. doi: 10.1177/000992287101001029.