A seven-month old female presented with left tibial hemimelia(or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot(congenital talipes equinovarus)....A seven-month old female presented with left tibial hemimelia(or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot(congenital talipes equinovarus). Definitive amputation surgery disarticulated the lower limb at the knee. This case report describes the anatomical findings of a systematic post-amputation examination of the lower limb's superficial dissection, X-ray s, and computed to mography (CT) scans. From the X-rays and CT scans, we found curved and overlapping preaxial supernumerary toes, hypoplastic first metatarsal, lack of middle and distal phalanges in one supernumerary toe, three tarsal bones, hypoplastic middle phalanx and no distal phalanx for fourth toe, andno middle or distal phalanges for fifth toe. The fibula articulated with the anteromedial calcaneus and the tibia was completely absent. We identified numerous muscles and nerves in the superficial dissection that are described in the results section of the case report. Due to the rarity of this combination of anatomical findings, descriptions of such cases are very infrequent in the literature.展开更多
Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or toes.It is considered to be one of the most common inherited h...Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or toes.It is considered to be one of the most common inherited hand disorders.It can be divided into two major groups:Non-syndromic polydactyly or syndromic polydactyly.According to the anatomical location of the duplicated digits,polydactyly can be generally subdivided into pre-,post-axial,and mesoaxial forms.Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation.There are several forms of polydactyly,including hand and foot extra digit manifestations.The deformity affects upper limbs with a higher frequency than the lower,and the left foot is more often involved than the right.The treatment is always surgical.Since the clinical presentation is highly diverse,the treatment combines single or multiple surgical operations,depending on the type of polydactyly.The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders.Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most nonsyndromic and syndromic disorders.展开更多
目的研究先天性复拇合并三指节拇指畸形的一个家系的临床表现及致病原因。方法在患者家系调查的基础上，应用聚合酶链反应（PCR）技术对极化活性区（zone of polarizing activlty，ZPA）调控序列进行扩增和测序分析。结果体检发现，患...目的研究先天性复拇合并三指节拇指畸形的一个家系的临床表现及致病原因。方法在患者家系调查的基础上，应用聚合酶链反应（PCR）技术对极化活性区（zone of polarizing activlty，ZPA）调控序列进行扩增和测序分析。结果体检发现，患者存在单侧或双侧拇指的复拇合并三指节拇指畸形，部分患者还可合并轴前和轴后的多指畸形。病因研究提示，在所有患者ZPA调控序列的第105位碱基对上发现了C→G的点突变。结论复拇合并三指节拇指畸形家系患者由ZPA调控序列的第105位碱基对上C→G的点突变所致。展开更多
文摘A seven-month old female presented with left tibial hemimelia(or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot(congenital talipes equinovarus). Definitive amputation surgery disarticulated the lower limb at the knee. This case report describes the anatomical findings of a systematic post-amputation examination of the lower limb's superficial dissection, X-ray s, and computed to mography (CT) scans. From the X-rays and CT scans, we found curved and overlapping preaxial supernumerary toes, hypoplastic first metatarsal, lack of middle and distal phalanges in one supernumerary toe, three tarsal bones, hypoplastic middle phalanx and no distal phalanx for fourth toe, andno middle or distal phalanges for fifth toe. The fibula articulated with the anteromedial calcaneus and the tibia was completely absent. We identified numerous muscles and nerves in the superficial dissection that are described in the results section of the case report. Due to the rarity of this combination of anatomical findings, descriptions of such cases are very infrequent in the literature.
文摘Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or toes.It is considered to be one of the most common inherited hand disorders.It can be divided into two major groups:Non-syndromic polydactyly or syndromic polydactyly.According to the anatomical location of the duplicated digits,polydactyly can be generally subdivided into pre-,post-axial,and mesoaxial forms.Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation.There are several forms of polydactyly,including hand and foot extra digit manifestations.The deformity affects upper limbs with a higher frequency than the lower,and the left foot is more often involved than the right.The treatment is always surgical.Since the clinical presentation is highly diverse,the treatment combines single or multiple surgical operations,depending on the type of polydactyly.The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders.Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most nonsyndromic and syndromic disorders.
文摘目的研究先天性复拇合并三指节拇指畸形的一个家系的临床表现及致病原因。方法在患者家系调查的基础上，应用聚合酶链反应（PCR）技术对极化活性区（zone of polarizing activlty，ZPA）调控序列进行扩增和测序分析。结果体检发现，患者存在单侧或双侧拇指的复拇合并三指节拇指畸形，部分患者还可合并轴前和轴后的多指畸形。病因研究提示，在所有患者ZPA调控序列的第105位碱基对上发现了C→G的点突变。结论复拇合并三指节拇指畸形家系患者由ZPA调控序列的第105位碱基对上C→G的点突变所致。
