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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Bibliographic Details
Main Authors: Rahim Vakili, MD, Moein Mobini, MD, Farbod Hatami, MD, Saba Vakili, MD, Niloufar Valizadeh, MD
Format: Article
Language:English
Published: Elsevier 2022-05-01
Series:Radiology Case Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043322001182