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: | , , , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2015-01-01T00:00:00Z.
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| Summary: | 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. |
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| Item Description: | 2348-3334 2348-506X 10.4103/2348-3334.153265 |