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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Wolters Kluwer Medknow Publications,
2015-01-01T00:00:00Z.
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LEADER | 00000 am a22000003u 4500 | ||
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001 | doaj_541a91bfad7b4a89a1377e13c57a2ba0 | ||
042 | |a dc | ||
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 | ||
500 | |a 10.4103/2348-3334.153265 | ||
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) | |
787 | 0 | |n http://www.cjhr.org/article.asp?issn=2348-3334;year=2015;volume=2;issue=2;spage=160;epage=162;aulast=Sharma | |
787 | 0 | |n https://doaj.org/toc/2348-3334 | |
787 | 0 | |n https://doaj.org/toc/2348-506X | |
856 | 4 | 1 | |u https://doaj.org/article/541a91bfad7b4a89a1377e13c57a2ba0 |z Connect to this object online. |