先天性三代宽家族性非综合症多指畸形。

IF 1.3 4区 医学 Q3 PEDIATRICS Congenital Anomalies Pub Date : 2024-07-06 DOI:10.1111/cga.12578
Özgür Agdoğan
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引用次数: 0

摘要

多指畸形通常以孤立和偶发的形式出现,但也存在家族病例,只是频率较低,表现为各种遗传模式。约有 30% 的多趾畸形病例有家族史,这表明可能涉及单个基因。鉴于多指畸形有可能遗传,因此必须彻底调查患者的父母、一级亲属、祖父母甚至曾祖父母是否患有类似疾病。在我们的诊所,我们对患有足多趾症的患者及其一等和二等亲属的两到三代家族史进行了分析。这项研究涵盖了三名患者及其各自的家庭,包括一对兄弟姐妹。我们推测病例的遗传类型为常染色体显性遗传。在我们的患者中,一人表现为中央型多指畸形,其余患者和所有家族病例均表现为后轴型多指畸形。在形态学分类方面,一名患者的跖骨呈 "Y "形,另一名患者的跖骨呈 "T "形,第三名患者的跖骨呈重复射线形。在我们查阅的文献中,还没有遇到过像我们遇到的这种跨越三代的病例。此外,从解剖学角度来看,在 T 型和 Y 型跖骨病例的两根伸肌腱之间存在一条横向的附属伸肌腱,这也引起了我们的兴趣。我们的目的是介绍这些跨越三代的罕见先天性家族性多趾畸形病例,突出所观察到的解剖学变异,并希望对现有的相关文献有所贡献。
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Congenital three generation wide familial non-syndromic polydactyly

Polydactyly is typically observed as isolated and sporadic occurrences, although familial cases do exist, albeit with lower frequency, manifesting in various inheritance patterns. In around 30% of polydactyly cases, there exists a familial history, suggesting the probable involvement of a single gene. Given its potential for hereditary transmission, thorough investigation of the patients' parents, first-degree relatives, grandparents, and even great-grandparents for similar disorders becomes imperative. In our clinic, we conducted an analysis focusing on patients presenting with foot polydactyly, along with occurrences of polydactyly among their first- and second-degree relatives spanning two to three generations of family history. The study encompassed three patients and their respective families, including a pair of siblings. We speculate that the inheritance type in our cases was autosomal dominant. Among our patients, one presented with central polydactyly, while the remaining patients and all familial cases displayed postaxial polydactyly. In terms of morphologic classification, one patient had a Y-shaped metatarsal, another had a T-shaped metatarsal, and the third patient exhibited a duplicated ray-shaped anomaly. In our review of the literature, we haven't come across a case spanning three generations like the ones we encountered. Additionally, the presence of a transverse accessory extensor tendon between both extensor tendons in cases with T- and Y-shaped metatarsals intrigued us from an anatomical perspective. Our goal is to present these rare cases of congenital familial polydactyly spanning three generations, highlighting the anatomical variations observed and aiming to contribute to the existing body of literature on the subject.

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来源期刊
Congenital Anomalies
Congenital Anomalies PEDIATRICS-
自引率
0.00%
发文量
49
审稿时长
>12 weeks
期刊介绍: Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.
期刊最新文献
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