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Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome

机译:伴有或不伴有马蹄内翻足和Dundar综合征的拇指内收综合征

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摘要

Congenital adducted thumb has been called variously as congenital clasped thumb, thumb in palm deformity or flexion adduction deformity of the thumb. This condition can be an isolated anomaly or associated with several genetic disorders. The syndromes that include adducted thumb as a cardinal feature such as Dundar Syndrome are few in the literature. This syndrome is an autosomal-recessive very rare disorder characterized by typical facial appearance with dysmorphic features that includes wasted build, hyperextensible, thin and translucent skin with atrophic scarring, severe congenital contractures of fingers and thumbs, club feet, severe kyphoscoliosis, joint instability, muscular hypotonia, and ocular involvement. Heart, kidney, and/or intestinal defects can also be observed. Up to date the syndrome is described in few families in the literature. Here we discuss the syndromes that include adducted thumb as a cardinal feature and also the differential diagnosis of the Dundar Syndrome according to the literature.
机译:先天性内收拇指被称为先天性紧握拇指,拇指掌部畸形或拇指屈曲内收畸形。这种情况可能是孤立的异常,也可能是与几种遗传疾病有关。包括内收拇指为主要特征的综合症(例如Dundar综合症)在文献中很少。该综合征是一种常染色体隐性遗传的非常罕见的疾病,其特征在于典型的面部外观,具有畸形特征,包括虚构身材,过度伸展,稀薄和半透明的皮肤,萎缩性瘢痕,严重的先天性手指,拇指挛缩,俱乐部脚,严重的脊柱后凸畸形,关节不稳定,肌张力低下和眼部受累。还可以观察到心脏,肾脏和/或肠道缺陷。迄今为止,文献中很少有家庭描述这种综合征。在这里,我们讨论了根据文献报道的包括内收拇指为主要特征的综合症,以及邓达尔综合症的鉴别诊断。

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