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遗传性食指多指畸形:一个大家族中的表型、放射学、皮纹学及遗传学研究结果

Hereditary index finger polydactyly: phenotypic, radiological, dermatoglyphic, and genetic findings in a large family.

作者信息

Atasu M

出版信息

J Med Genet. 1976 Dec;13(6):469-76. doi: 10.1136/jmg.13.6.469.

DOI:10.1136/jmg.13.6.469
PMID:1018306
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013473/
Abstract

Index finger polydactyly in a Turkish family is reported. The transmission of the malformation fits the pattern of regular autosomal dominant inheritance. Some of the affected individuals had one or two phalanges on their first digits, but all had triphalangeal second fingers. Subjects with polydactyly had very interesting dermatoglyphs, such as an extra a triradius under the super-numerary index finger, the proximal radiant of this triradius (an extra A-line) ending on the radial border of the hand, and arch tibials in the hallucal areas. The carpal bones, beginning with os multangulum majus, or alternatively with the extra one were articulated with two metacarpals. A similar finding was found in the feet.

摘要

报道了一个土耳其家庭中的食指多指畸形。该畸形的遗传符合常染色体显性遗传规律。一些受影响个体的食指有一个或两个指骨,但所有个体的第二指均为三节指骨。多指畸形患者有非常有趣的皮纹,如多余食指下有一个额外的三叉点,该三叉点的近端射线(额外的A线)在手的桡侧缘结束,以及拇趾区域的胫侧弓纹。从大多角骨开始,或者从额外的那块骨头开始,腕骨与两块掌骨相连。在足部也发现了类似的情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0501/1013473/be2828da2eb5/jmedgene00313-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0501/1013473/3d27169116fb/jmedgene00313-0054-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0501/1013473/2a47312d1d82/jmedgene00313-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0501/1013473/4292900dcb16/jmedgene00313-0056-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0501/1013473/a875ea738ec0/jmedgene00313-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0501/1013473/be2828da2eb5/jmedgene00313-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0501/1013473/3d27169116fb/jmedgene00313-0054-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0501/1013473/2a47312d1d82/jmedgene00313-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0501/1013473/4292900dcb16/jmedgene00313-0056-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0501/1013473/a875ea738ec0/jmedgene00313-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0501/1013473/be2828da2eb5/jmedgene00313-0057-b.jpg

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Hereditary index finger polydactyly: phenotypic, radiological, dermatoglyphic, and genetic findings in a large family.遗传性食指多指畸形:一个大家族中的表型、放射学、皮纹学及遗传学研究结果
J Med Genet. 1976 Dec;13(6):469-76. doi: 10.1136/jmg.13.6.469.
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本文引用的文献

1
Duplication of the index finger.食指重复畸形
J Bone Joint Surg Am. 1970 Apr;52(3):569-73.
Front Pediatr. 2022 May 16;10:797978. doi: 10.3389/fped.2022.797978. eCollection 2022.