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

Rahim Vakili; Moein Mobini; Farbod Hatami; Saba Vakili; Niloufar Valizadeh

doi:10.1016/j.radcr.2022.02.028

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

Radiol Case Rep. 2022 Mar 4;17(5):1512-1520. doi: 10.1016/j.radcr.2022.02.028. eCollection 2022 May.

Authors

Rahim Vakili¹, Moein Mobini¹, Farbod Hatami², Saba Vakili¹, Niloufar Valizadeh³

Affiliations

¹ Medical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.
² Department of Cardiology, Cardiovascular Diseases Research Center, Birjand University of Medical Sciences, Birjand, Iran.
³ Department of Radiology, Birjand University of Medical Sciences, Birjand, Iran.

Abstract

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 triangular face, micrognathia, and delayed motor development. To the edge of our knowledge, this is the first diagnosed Iranian MGS patient and sixth case in the middle east. MGS1 subtype has never shown improvement to growth hormone therapy, therefore underlying molecular defect was suggested to be responsible for patients' short stature rather than growth hormone deficiency. However, our patients' growth velocity was improved by growth hormone. We recommend more studies to specify the role of ORC1 gene in this syndrome. In addition, this case report describes the prenatal investigations and sonographic examinations of MGS1 for the first time.

Keywords: Absent patella; Growth hormone; Meier-Gorlin syndrome 1 (MGS1); Ultrasonography; Whole-exome sequencing (WES) Intrauterine growth restriction.

Publication types

Case Reports