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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| Format: | Article |
| Language: | English |
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Elsevier
2022-05-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043322001182 |
| _version_ | 1819047430138626048 |
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| author | Rahim Vakili, MD Moein Mobini, MD Farbod Hatami, MD Saba Vakili, MD Niloufar Valizadeh, MD |
| author_facet | Rahim Vakili, MD Moein Mobini, MD Farbod Hatami, MD Saba Vakili, MD Niloufar Valizadeh, MD |
| author_sort | Rahim Vakili, MD |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T11:00:14Z |
| format | Article |
| id | doaj.art-86ea45789d444f17b342da4ed0886cb6 |
| institution | Directory Open Access Journal |
| issn | 1930-0433 |
| language | English |
| last_indexed | 2024-12-21T11:00:14Z |
| publishDate | 2022-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj.art-86ea45789d444f17b342da4ed0886cb62022-12-21T19:06:23ZengElsevierRadiology Case Reports1930-04332022-05-0117515121520Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare caseRahim Vakili, MD0Moein Mobini, MD1Farbod Hatami, MD2Saba Vakili, MD3Niloufar Valizadeh, MD4Medical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, IranMedical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, IranDepartment of Cardiology, Cardiovascular Diseases Research Center, Birjand University of Medical Sciences, Birjand, IranMedical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, IranDepartment of Radiology, Birjand University of Medical Sciences, Birjand, Iran; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1930043322001182Meier-Gorlin syndrome 1 (MGS1)UltrasonographyWhole-exome sequencing (WES) Intrauterine growth restrictionGrowth hormoneAbsent patella |
| spellingShingle | Rahim Vakili, MD Moein Mobini, MD Farbod Hatami, MD Saba Vakili, MD Niloufar Valizadeh, MD Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case Radiology Case Reports Meier-Gorlin syndrome 1 (MGS1) Ultrasonography Whole-exome sequencing (WES) Intrauterine growth restriction Growth hormone Absent patella |
| title | Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case |
| title_full | Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case |
| title_fullStr | Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case |
| title_full_unstemmed | Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case |
| title_short | Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case |
| title_sort | meier gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy six years follow up of a rare case |
| topic | Meier-Gorlin syndrome 1 (MGS1) Ultrasonography Whole-exome sequencing (WES) Intrauterine growth restriction Growth hormone Absent patella |
| url | http://www.sciencedirect.com/science/article/pii/S1930043322001182 |
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