Ectrodactyly-ectodermic dysplasia-cleft lip/palate(EEC)syndrome is a rare congenital anomaly of inherited origin and varying clinical features.This syndrome has three main symptoms,which display variable expression an...Ectrodactyly-ectodermic dysplasia-cleft lip/palate(EEC)syndrome is a rare congenital anomaly of inherited origin and varying clinical features.This syndrome has three main symptoms,which display variable expression and penetrance.The management of this syndrome is challenging,with few reports in the medical literature.We present a case of a 22-year-old boy with EEC syndrome and offer insight into current knowledge about this syndrome.展开更多
BACKGROUND Cleft foot is a very rare congenital anomaly,which is characterized by central rays deficiency of the foot.It is also known as split foot or ectrodactyly of the foot,and it is very often combined with split...BACKGROUND Cleft foot is a very rare congenital anomaly,which is characterized by central rays deficiency of the foot.It is also known as split foot or ectrodactyly of the foot,and it is very often combined with splitting of the hands.The defect develops due to insufficient activity of the median apical ectodermal ridge,which leads to an increase in cell death or a decrease in cell proliferation.Due to the rarity of the pathology,there are few papers on the surgical treatment of this congenital foot disease,and publications to date concern the treatment of children.CASE SUMMARY We present a clinical case of congenital splitting of the feet and hands in a 31-year-old woman and a long-term result of foot treatment using the minimal arrangement of the Ilizarov apparatus.The patient had paternal inheritance of the trait.After the surgical treatment,cosmetic view and functional condition of the foot were improved and persisted two years after intervention.There were no complications in the treatment process.CONCLUSION The possibility of dosed control and stable fixation of the foot rays made it possible to create favorable conditions for the healing of the central wound and the closure of the segment splitting without complications.The long-term outcome of the treatment of foot congenital splitting using the proposed Ilizarov apparatus arrangement has shown its effectiveness.Our approach should be considered as an option of treatment in similar cases.展开更多
Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one ...Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one or more median rays or digits creating cone shaped clefts of the hands and/or feet. The present case of severe bilateral split-hand and foot malformations was presented in an 8-year-old girl in India. This case of SHFM involves the complete absence of the central rays of the autopod in which each of the hands and each foot is divided into two parts by a coned shape cleft tapering proximally, resembling a “lobster claw”. SHFM is often associated with other limb anomalies including monodactyly, syndactyly and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Most cases are sporadic;however familial forms do exist with pre-dominantly autosomal dominant inheritance. This case is an example of the non-syndromic form of SHFM expressed with isolated involvement of the limbs, while the syndromic form is associated with anomalies as intellectual disability, ectodermal and craniofacial findings and hearing loss. Non-syndromic isolated ectrodactyly does not usually require surgical intervention. We recommended against surgical reconstruction, due to lack of evidence of functional disability.展开更多
文摘Ectrodactyly-ectodermic dysplasia-cleft lip/palate(EEC)syndrome is a rare congenital anomaly of inherited origin and varying clinical features.This syndrome has three main symptoms,which display variable expression and penetrance.The management of this syndrome is challenging,with few reports in the medical literature.We present a case of a 22-year-old boy with EEC syndrome and offer insight into current knowledge about this syndrome.
文摘BACKGROUND Cleft foot is a very rare congenital anomaly,which is characterized by central rays deficiency of the foot.It is also known as split foot or ectrodactyly of the foot,and it is very often combined with splitting of the hands.The defect develops due to insufficient activity of the median apical ectodermal ridge,which leads to an increase in cell death or a decrease in cell proliferation.Due to the rarity of the pathology,there are few papers on the surgical treatment of this congenital foot disease,and publications to date concern the treatment of children.CASE SUMMARY We present a clinical case of congenital splitting of the feet and hands in a 31-year-old woman and a long-term result of foot treatment using the minimal arrangement of the Ilizarov apparatus.The patient had paternal inheritance of the trait.After the surgical treatment,cosmetic view and functional condition of the foot were improved and persisted two years after intervention.There were no complications in the treatment process.CONCLUSION The possibility of dosed control and stable fixation of the foot rays made it possible to create favorable conditions for the healing of the central wound and the closure of the segment splitting without complications.The long-term outcome of the treatment of foot congenital splitting using the proposed Ilizarov apparatus arrangement has shown its effectiveness.Our approach should be considered as an option of treatment in similar cases.
文摘Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one or more median rays or digits creating cone shaped clefts of the hands and/or feet. The present case of severe bilateral split-hand and foot malformations was presented in an 8-year-old girl in India. This case of SHFM involves the complete absence of the central rays of the autopod in which each of the hands and each foot is divided into two parts by a coned shape cleft tapering proximally, resembling a “lobster claw”. SHFM is often associated with other limb anomalies including monodactyly, syndactyly and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Most cases are sporadic;however familial forms do exist with pre-dominantly autosomal dominant inheritance. This case is an example of the non-syndromic form of SHFM expressed with isolated involvement of the limbs, while the syndromic form is associated with anomalies as intellectual disability, ectodermal and craniofacial findings and hearing loss. Non-syndromic isolated ectrodactyly does not usually require surgical intervention. We recommended against surgical reconstruction, due to lack of evidence of functional disability.
