Larsen syndrome: report of a case in a family in Mexico.
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Abstract
Background: Larsen's syndrome is considered a rare disease caused by a mutation in the FLNB gene; it is mainly characterized by abnormal bone development, resulting in various clinical manifestations, such as clubfoot, joint, and ligament hyperlaxity, facial dysmorphia such as hypertelorism, depressed nasal bridge, and prominent forehead, among others. It is inherited in an autosomal dominant pattern. Case report: A female patient diagnosed with Larsen syndrome whose mother and maternal grandfather have the same diagnosis. At birth, she was hospitalized for seven days after findings suggestive of the syndrome and various complications. Conclusion: There is no official registry of patients with Larsen syndrome cases, but it is essential to monitor and treat patients appropriately.
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References
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