Larsen syndrome: report of a case in a family in Mexico.

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Emilia Melo Sánchez
Alejandro Gaviño Vergara

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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How to Cite
Melo Sánchez, E., & Gaviño Vergara, A. (2023). Larsen syndrome: report of a case in a family in Mexico. Pediatría, 55(Suplemento 2), 27–30. https://doi.org/10.14295/rp.v55iSuplemento2.394
Section
Case report

References

OMIM Entry-# 150250- LARSEN SYNDROME; LRS [Internet]. Omim.org. 2018 [cited 2022 Jun 09]. Available from: https://omim.org/entry/150250.

Camacho A, Haces García F, Lizárraga R, Verdugo Hernández A. Síndrome de Larsen: 22 casos, evolución y tratamiento. Acta Ortopédica Mexicana [Internet]. 2007;21(1):20–3. [cited 2022 Jun 09] Available from: https://www.medigraphic.com/pdfs/ortope/or-2007/or071e.pdf.

Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature Genetics [Internet]. 2004 Feb 29 [cited 2022 Jun 09];36(4):405–10. Available from: https://www.nature.com/articles/ng1319. DOI: https://doi.org/10.1038/ng1319

Invitae Skeletal Disorders Panel | Test catalog | Invitae [Internet]. Invitae.com. Invitae; 2022 [cited 2022 Jun 25]. Available from: https://www.invitae.com/en/providers/test-catalog/test-89100.

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