2021, Number 4
Towens-Brocks syndrome. Presentation of a case
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Language: Spanish
References: 10
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ABSTRACT
Introduction: Townes-Brocks syndrome is a malformation genetic disease, is an autosomal dominant genetic disorder, with complete penetrance and highly variable expressivity. It is characterized by a triad of congenital defects at the level of the external ear, anorectal and distal extremities, especially at the level of the thumbs, caused by mutations in the SALL1 gene, which codes for the transcription factor, located on chromosome 16q12.1.Case presentation: a 9-month-old female infant was diagnosed at birth with imperforate anus, preauricular appendix and bifid first finger. The clinical diagnosis was immediately made and the surgical intervention ended in a well-tolerated colostomy, achieving good nutrition and psychomotor development.
Conclusions: early clinical diagnosis is considered important to carry out timely interventions to improve the vital functions on these patients, as well as to provide adequate genetic counseling to the families.
REFERENCES
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Bozal-Basterra L, Martín-Ruíz I, Pirone L, Liang Y, Sigurðsson JO, Gonzalez-Santamarta M, et al. Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. Am J Hum Genet . [Internet]. 2018 Feb 1 [citado: 10/12/2020];102(2): [aprox. 14p.]. Disponible en: Disponible en: https://www.sciencedirect.com/science/article/pii/S0002929717305074?via%3Dihub
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Bozal-Basterra L, Gonzalez-Santamarta M, Muratore V, Bermejo-Arteagabeitia A, Da Fonseca C, Barroso-Gomila O, et al. LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome. Elife. [Internet]. 2020 Jun 18 [citado: 10/12/2020]; 9: e55957. Disponible en: Disponible en: https://pubmed.ncbi.nlm.nih.gov/32553112/