[Coffin-Lowry syndrome: Case report in Mexico]

Coffin-Lowry syndrome (CLS, OMIM #303600) is an X-linked dominant inherited condition caused by variants in the RPS6KA3 gene located at Xp22.12 and mainly affects men. It is associated with various phenotypes, including dysmorphic facial features, neurodevelopmental impairment, short stature, and skeletal deformities. The objective was to present a case of CLS, describe the clinical manifestations found, compare it with what is reported in the literature and collaborate in expanding the phenotypic and molecular spectrum, because it presents a previously unreported variant.

A 4-year-old male, son of healthy, non-consanguineous parents, who presents distinctive clinical features of CLS: global neurodevelopmental delay, hypertelorism, low-set and prominent ears, down-slanted palpebral fissures, depressed nasal bridge, anteverted nostrils, wide mouth, widely spaced teeth, and broad fingers. Genetic analysis revealed a likely pathogenic hemizygous variant RPS6KA3 c.1762G>A (p. Glu588Lys) associated with CLS.

CLS is a rare entity that is usually diagnosed in childhood. Typical facial changes and specific clinical and radiological signs in the hands are very useful in diagnosis.