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[全并指畸形伴上肢中节缩短、桡尺骨和掌骨融合以及指骨结构紊乱(“塞纳尼并指畸形”)(作者译)]

[Total syndactylism with mesomelic shortening of the arm, radioulnar and metacarpal synostoses and disorganization of the phalanges ("cenani syndactylism") (author's transl)].

作者信息

Drohm D, Lenz W, Yang T S

出版信息

Klin Padiatr. 1976 Jul;188(4):359-65.

PMID:185451
Abstract

An additional case "Cenani syndactylism" in a 7 years-old female child was described. With this autosomal recessive inherited disease, the radius and ulna are severly shortened and generally fused with each other. The metacarpal bones are, for the most part, synostosized. The phalanges are badly disorganized. Usually no fingers can be recognized externally. The alterations in the feet are far less pronounced. Syndactylism and ray reduction are frequent. A similar, but apparently independent, case with radioulnar synstostoses, reduction, dysplasia and fusion of the metacarpal bones but less pronounced malformations of the fingers was also described. Finally, new type of malformation was present for comparison in which an increased number of metacarpi and metatarsi and, to some extent, severely disorganized phalanges with massive syndactylism are present. The etiology of the second and third cases could not be explained.

摘要

描述了一名7岁女童的另一例“塞纳尼并指畸形”病例。对于这种常染色体隐性遗传病,桡骨和尺骨严重缩短,通常相互融合。掌骨大多已骨性连接。指骨排列严重紊乱。通常从外部无法辨认出手指。足部的改变则远没有那么明显。并指畸形和射线减少很常见。还描述了一个类似但显然独立的病例,该病例存在桡尺骨骨性连接、掌骨减少、发育异常和融合,但手指畸形不太明显。最后,为作比较展示了一种新型畸形,其中掌骨和跖骨数量增加,在某种程度上,指骨严重紊乱且伴有大量并指畸形。第二和第三个病例的病因无法解释。

相似文献

1
[Total syndactylism with mesomelic shortening of the arm, radioulnar and metacarpal synostoses and disorganization of the phalanges ("cenani syndactylism") (author's transl)].[全并指畸形伴上肢中节缩短、桡尺骨和掌骨融合以及指骨结构紊乱(“塞纳尼并指畸形”)(作者译)]
Klin Padiatr. 1976 Jul;188(4):359-65.
2
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.塞纳尼-伦茨并指综合征——一个孤立性并指家族的病例报告
BMC Med Genet. 2018 Jul 24;19(1):125. doi: 10.1186/s12881-018-0646-1.
3
A variant of Cenani-Lenz type syndactyly.塞纳尼-伦茨型并指畸形的一种变体。
Genet Couns. 2000;11(1):41-7.
4
Dermatoglyphics in patients with Cenani-Lenz type syndactyly: studies in a new case.
Am J Med Genet. 1997 Jun 27;70(4):341-5. doi: 10.1002/(sici)1096-8628(19970627)70:4<341::aid-ajmg1>3.0.co;2-w.
5
Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5.双侧拇指发育不全、近端桡尺关节融合以及第4和第5掌骨单侧融合。
Genet Couns. 2004;15(1):67-71.
6
Cenani-Lenz syndrome in father and daughter.父女患塞纳尼-伦茨综合征。
Genet Couns. 1996;7(2):153-7.
7
[One-bone forearm due to growth disorders and developmental defects of the arm].由于手臂生长紊乱和发育缺陷导致的单骨前臂
Chir Narzadow Ruchu Ortop Pol. 1979;44(2):203-6.
8
[An angiographic study of congenital hand anomalies (author's transl)].
Nihon Seikeigeka Gakkai Zasshi. 1981 Feb;55(2):183-97.
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Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome.
Clin Dysmorphol. 2004 Jul;13(3):143-150. doi: 10.1097/01.mcd.0000127466.26888.15.
10
[Hereditary radioulnar sinostosis (author's transl)].[遗传性桡尺骨融合(作者译)]
Rev Invest Clin. 1978 Jul-Sep;30(3):307-10.

引用本文的文献

1
Case report 636. Tetrapolysyndactyly with postaxial type of polydactyly.病例报告636。伴有轴后型多指(趾)畸形的四肢多指(趾)畸形。
Skeletal Radiol. 1990;19(7):542-4. doi: 10.1007/BF00202709.
2
Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly.
Hum Genet. 1979 Apr 27;48(2):183-9. doi: 10.1007/BF00286902.