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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

Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: a possible new palato-digital syndrome.

作者信息

Silengo M C, Franceschini P, Cerutti A, Fabris C

出版信息

Pediatr Radiol. 1977 Oct 28;6(3):178-80. doi: 10.1007/BF00972113.

DOI:10.1007/BF00972113
PMID:927984
Abstract

A nine day old boy who had the Pierre Robin syndrome also had an unusual associated hand malformation consisting of bilateral clinodactyly of the index finger. A supernumerary phalanx was inserted between the second metacarpal and the proximal phalanx of both index fingers with a radial deviation of the same phalanx. The same hand malformation has been previously described in three patients who had either the Pierre Robin syndrome or isolated cleft palate. On the basis of ours and the three previous cases, the existence of a new palato-digital syndrome is suggested.

摘要

一名患有皮埃尔·罗宾综合征的9天大男婴还伴有一种不寻常的手部畸形,表现为双侧食指尺侧弯曲。在双侧食指的第二掌骨和近端指骨之间插入了一个多余指骨,且该指骨向桡侧偏斜。先前曾在另外三名患有皮埃尔·罗宾综合征或孤立性腭裂的患者中描述过同样的手部畸形。基于我们的病例以及之前的三例病例,提示存在一种新的腭指综合征。

相似文献

1
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.
2
[Catel-Manzke syndrome].[卡特-曼茨克综合征]
Klin Padiatr. 1990 Jan-Feb;202(1):60-3. doi: 10.1055/s-2007-1025488.
3
[Congenital micrognathism, glossoptosis and fissure of the soft palate (Pierre Robin syndrome)].
Arch Argent Pediatr. 1961 Aug;56:125-32.
4
[THE PIERRE ROBIN SYNDROME (MICROGNATHIA, CLEFT PALATE, GLOSSOPTOSIS)].[皮埃尔·罗宾综合征(小颌畸形、腭裂、舌后坠)]
Pediatria (Napoli). 1963 Jul-Aug;71:669-90.
5
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.
6
[Robin Syndrome. Cleft palate, micrognathism and glossoptosis].
Acta Odontol Venez. 1973 May-Dec;11(2-3):283-94.
7
[Synthesis of current knowledge on Pierre Robin syndrome].[皮埃尔·罗宾综合征的当前知识综合]
J Dent Que. 1991 Jan;28:9-11.
8
Robin sequence and oligodactyly in mother and son.母子患罗宾序列征和多指(趾)畸形。
Am J Med Genet. 1986 Oct;25(2):293-7. doi: 10.1002/ajmg.1320250214.
9
[Pierre Robin syndrome].[皮埃尔·罗宾综合征]
Acta Stomatol Belg. 1988 Sep;85(3):207-16.
10
Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome?
Am J Med Genet. 1993 Apr 15;46(2):176-9. doi: 10.1002/ajmg.1320460215.

引用本文的文献

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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.
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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.

本文引用的文献

1
PIERRE ROBIN AND THE SYNDROME THAT BEARS HIS NAME.
Cleft Palate J. 1965 Jul;36:237-46.
2
[Symmetrical hyperphalangy of the second finger by a supplementary metacarpus bone].
Fortschr Geb Rontgenstr Nuklearmed. 1966 Sep;105(3):425-7.
3
[Non-thalidomide-induced severe dysmelia associated with Pierre Robin syndrome].[非沙利度胺所致的与皮埃尔·罗宾综合征相关的严重肢体发育异常]
Pathologica. 1965 Sep-Oct;57(853):245-50.
4
[A rare case of Pierre Robin syndrome with congenital arthrogryposis and intrahepatic calcifications].
[一例合并先天性多发性关节挛缩症及肝内钙化的皮埃尔·罗宾综合征罕见病例]
Minerva Pediatr. 1965 Nov 17;17(35):1809-14.
5
[Pierre Robin syndrome and associated malformations].[皮埃尔·罗宾综合征及相关畸形]
Minerva Pediatr. 1965 Dec 8;17(38):1910-5.
6
[Apropos of mental deficiency and anomalies associated with the symptomatic triad of the Pierre Robin syndrome].[关于与皮埃尔·罗宾综合征症状三联征相关的智力缺陷及异常情况]
Ann Pediatr (Paris). 1967 Jan 2;14(1):28-33.
7
[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.