RF02 | PMON323 Pituitary stalk interruption syndrome, polydactyly, polymicrogyria and a ZRSR2 variant

BACKGROUND: Pituitary stalk interruption syndrome (PSIS) may associate with brain midline defects and also with polydactyly (GLI2 mutations) but rarely with brain cortex anomalies. CLINICAL CASE: We report a boy referred at age 19 months because of growth failure. Bilateral postaxial polydactyly, sy...

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Detalles Bibliográficos
Autores principales: Jacobs, An, Hannes, Laurens, Rochtus, Anne, Casteels, Kristina, Atzori, Marta, Attanasio, Catia, Pelgrims, Elise, Breckpot, Jeroen, de Zegher, Francis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625302/
http://dx.doi.org/10.1210/jendso/bvac150.1322

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