Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case

Meire-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by a triad of short stature, microtia, and absent or hypoplastic patella. We report a 5-year-old male affected with the subtype MGS1, secondary to c.c2292t mutation of ORC1 gene. Our patient's features included a t...

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Detalles Bibliográficos
Autores principales: Vakili, Rahim, Mobini, Moein, Hatami, Farbod, Vakili, Saba, Valizadeh, Niloufar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904407/
https://www.ncbi.nlm.nih.gov/pubmed/35282325
http://dx.doi.org/10.1016/j.radcr.2022.02.028

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