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
Four cases of proximal femoral focal deficiency (PFFD) in an otherwise healthy infant are described. Antenatal diagnosis was made at 27, 23, 23 and 18 weeks of gestation by routine ultrasound (US) examination. Compute...Four cases of proximal femoral focal deficiency (PFFD) in an otherwise healthy infant are described. Antenatal diagnosis was made at 27, 23, 23 and 18 weeks of gestation by routine ultrasound (US) examination. Computer Tomography (CT) was performed after 30 weeks of gestation and confirmed the images obtained by US. The diagnosis was confirmed after delivery. These cases illustrate the importance of combining US and CT to improve accuracy of prenatal diagnosis of skeletal disorders.展开更多
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.
文摘Four cases of proximal femoral focal deficiency (PFFD) in an otherwise healthy infant are described. Antenatal diagnosis was made at 27, 23, 23 and 18 weeks of gestation by routine ultrasound (US) examination. Computer Tomography (CT) was performed after 30 weeks of gestation and confirmed the images obtained by US. The diagnosis was confirmed after delivery. These cases illustrate the importance of combining US and CT to improve accuracy of prenatal diagnosis of skeletal disorders.
