Split-hand/foot malformation type 1 with sensorineural hearing loss (SHFM1D): A case report

Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic condition characterized by malformation of the limbs with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. It has a prevalence of 1:10,000-1:90,000 worldw...

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Main Authors: Chandra Madhur Sharma (Author), Deepti Sharma (Author), Manoj K Meghwani (Author), Ravi P Agrawal (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2015-01-01T00:00:00Z.
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100 1 0 |a Chandra Madhur Sharma  |e author 
700 1 0 |a Deepti Sharma  |e author 
700 1 0 |a Manoj K Meghwani  |e author 
700 1 0 |a Ravi P Agrawal  |e author 
245 0 0 |a Split-hand/foot malformation type 1 with sensorineural hearing loss (SHFM1D): A case report 
260 |b Wolters Kluwer Medknow Publications,   |c 2015-01-01T00:00:00Z. 
500 |a 2348-3334 
500 |a 2348-506X 
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520 |a Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic condition characterized by malformation of the limbs with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. It has a prevalence of 1:10,000-1:90,000 worldwide. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial defects, genitourinary abnormalities, and deafness. SHFM is a rare congenital anomaly. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a rare case of SHFM with sensorineural hearing loss. 
546 |a EN 
690 |a Ectrodactyly 
690 |a sensorineural hearing loss 
690 |a split-hand/split-foot malformation 
690 |a Medicine 
690 |a R 
690 |a Nursing 
690 |a RT1-120 
655 7 |a article  |2 local 
786 0 |n CHRISMED Journal of Health and Research, Vol 2, Iss 2, Pp 160-162 (2015) 
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787 0 |n https://doaj.org/toc/2348-506X 
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