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手部掌侧的背部皮肤和指甲:一种不寻常的解剖畸形。

Dorsal skin and fingernails on the volar aspect of the hand: an unusual anatomic deformity.

作者信息

Kalisman M, Goldberg R, Ship A G

出版信息

Plast Reconstr Surg. 1982 Apr;69(4):694-6. doi: 10.1097/00006534-198204000-00023.

DOI:10.1097/00006534-198204000-00023
PMID:7071209
Abstract

A very unusual hand malformation is reported in which dorsal skin and nails exist on the volar aspect of the hands. This patient also exhibits mental retardation and microcephaly as well as a partial deletion of chromosome 6. Fifty percent of a small series of patients previously reviewed who presented with chromosome 6 abnormalities demonstrated abnormalities of the hands. Unusual deformities of the hands associated with mental retardation and microcephaly may be related to an abnormality of chromosome 6.

摘要

据报道,有一例非常罕见的手部畸形,其手掌掌面存在背部皮肤和指甲。该患者还表现出智力发育迟缓、小头畸形以及6号染色体部分缺失。在之前回顾的一小批患有6号染色体异常的患者中,50%表现出手部异常。与智力发育迟缓和小头畸形相关的手部异常畸形可能与6号染色体异常有关。

相似文献

1
Dorsal skin and fingernails on the volar aspect of the hand: an unusual anatomic deformity.手部掌侧的背部皮肤和指甲:一种不寻常的解剖畸形。
Plast Reconstr Surg. 1982 Apr;69(4):694-6. doi: 10.1097/00006534-198204000-00023.
2
[Onychoheterotopia with polyonychia associated with Pierre Robin syndrome: apropos of a new case. (Trial of classifying nail ectopia)].
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Duplication 11 (q21 to 23 leads to qter) syndrome.11号染色体重复(q21至23延伸至qter)综合征
Birth Defects Orig Artic Ser. 1977;13(3B):167-86.
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Genetic and chromosomal abnormalities in early infancy.婴儿早期的遗传和染色体异常。
J Med Soc N J. 1972 Jan;69(1):11-4.
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Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.
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[An uncommon malformation-retardation syndrome with "sheep-like face" and associated with autosomal structural aberration (author's transl)].
Klin Padiatr. 1973 Sep;185(5):346-51.
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[Eye involvement in Pierre Robin syndrome].[皮埃尔·罗宾综合征中的眼部受累]
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[Orolaryngofacial malformations with recurrent attacks of asphyxia, with or without chromosome abnormalities].[伴有反复窒息发作的颌面畸形,有无染色体异常]
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Absence of nails with absent distal phalanges.无指甲且远节指骨缺失。
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Simian crease.
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