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多指畸形

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Profound mental retardation, scalp defects, holoprosencephaly, sloping forehead, anophthalmia/microphthalmia, absent nose, cyclopia, proboscis, bulbous nose, cleft lip/palate, cardiac abnormalities, omphalocele, ambiguous genitalia, postaxial polydactyly, neural tube defects

极重度精神发育迟滞;头皮缺失;前脑无裂畸形;前额倾斜;无眼/小眼;无鼻;独眼畸形;长嘴;球状鼻;唇腭裂;心脏异常;脐疝;两性生殖器;轴后多指畸形;神经管缺陷

Limb abnormalities including phocomelia, amelia, clubfeet, polydactyly, microtia, facial palsy, orofacial cleft, microphthalmia, cardiac defect, IUGR, urogenital, gastrointestinal, and spinal defects

四肢异常包括:短肢畸形;无肢畸形;畸形足;多指畸形、小耳畸形;面部麻痹;口面裂;小眼畸形;心脏异常;宫内生长受限;泌尿生殖系的、胃肠道的和记脊柱的缺陷

Objective To discuss the classification and treatment for congenital polydactyly.

目的 介绍先天性多指畸形的分类,讨论其治疗方法。

Objective To investigate the epidemiologyical characteristics of polydactyly.

多指是一类常见的先天畸形,影响患者手足外观和指趾功能。

The complex type of syndactyly may be associated with other finger or toe abnormalities including polydactyly, oligodactyly, or duplicated phalanges as well as abnormally shaped bones.

复合型并指畸形可能与合并其它手指或脚趾异常,包括多指、少指、重复指和异形骨。

CHF-associated diseases were Caroli's syndrome, polycystic kidney disease, caernous transformation of the portal ein, Joubert's syndrome, on Meyenburg complex, polydactyly, medullary sponge kidney, and pancreatic duct atrophy.

先天性肝纤维化相关的疾病包括Caroli's综合症、多囊肾、海绵状门静脉形成、Joubert's综合症,on Meyenburg 复合物,多指趾畸形,髓状海绵样肾,胰管萎缩。2例发展成胆管癌。

The most severe form of syndactyly is classified as complicated syndactyly which refers to fingers joined by bony fusion other than a side-to-side and can include bony abnormalities such as extra, missing, or duplicated phalanges and abnormally shaped bones such as delta phalanges.

最严重的并指类型被归为复杂并指畸形,它表示手指除了由骨并排连接外,还可包括骨的异常,例如:多出一部分、缺失或重复指,以及异常形状的骨,如三角骨。

Birthmark, indirect inguinal hernia,harelip,external ear deformity and hyperdactylia or syndactylia were the most commonly seen types of deformities.

畸形中以胎记、腹股沟斜疝、唇裂、外耳畸形及多指为多见,主要分布于0~ 19岁人群。

Genetic studies have been performed on the hereditary diseases of disseminated superficial actinic porokeratosis, familial progressive hyperpigmentation and triphalangeal thumb-polysyndactyly syndrome by linkage analysis and sequencing.

本研究通过连锁分析和直接测序的方法,分别对播散性浅表性光化性汗孔角化症、家族性进行性色素过度沉着症和拇指三指节多指并指多掌骨畸形这三种疾病进行了遗传学分析。

Genetic studies have been performed on the hereditary diseases of disseminated superficial actinic porokeratosis, familial progressive hyperpigmentation and triphalangeal thumb-polysyndactyly syndrome by linkage analysis and sequencing.

中文摘要本研究通过连锁分析和直接测序的方法,分别对播散性浅表性光化性汗孔角化症、家族性进行性色素过度沉着症和拇指三指节多指并指多掌骨畸形这三种疾病进行了遗传学分析。

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