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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2022-05-01
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Series: | Radiology Case Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043322001182 |