Resumo

XIMENA, Aguilar-Mercado et al. Autosomal recessive Robinow syndrome in a family with two affected siblings: a case report. Cuad. - Hosp. Clín. [online]. 2024, vol.65, n.1, pp.49-54. ISSN 1562-6776.  https://doi.org/10.53287/eeho8573pq81c.

Robinow syndrome is a rare genetic disorder caused by mutations in various genes within the Wnt signaling pathway, including WNT5A, DVL1, DVL3, ROR2, NXN, and FZ2. The syndrome is characterized by craniofacial anomalies, limb malformations, and genitourinary disorders.

Two siblings born to healthy parents present typical manifestations of Robinow syndrome. Genealogical analysis suggests an autosomal recessive inheritance mechanism. Although Robinow syndrome has been rarely reported in the international scientific literature, articles like the present contribute significantly to understanding the clinical features and transmission mechanism of the syndrome. Our article represents the first Bolivian report on this syndrome and is one of the few that describes two affected siblings.

Palavras-chave : Robinow syndrome; Wnt signaling pathway; craniofacial anomalies; limb malformations; genitourinary alterations.

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