An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder with homozygous or heterozygous mutations in one of the five following genes (ORC1, ORC4, ORC6, CDT1, and CDC6). This syndrome is characterized by the triad of short stature (pre/postnatal), microtia, and patella hypoplasia/aplasia....
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2022-11-01
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| Series: | Acta Medica Iranica |
| Subjects: | |
| Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/10123 |
| _version_ | 1828183809831469056 |
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| author | Shahin Koomanaee Setila Dalili Seyyedeh Azade Hoseini Nouri Seyedeh Zohreh Jalali Manijeh Tabrizi Ghazaleh Aldaghi Afagh Hassanzadeh Rad |
| author_facet | Shahin Koomanaee Setila Dalili Seyyedeh Azade Hoseini Nouri Seyedeh Zohreh Jalali Manijeh Tabrizi Ghazaleh Aldaghi Afagh Hassanzadeh Rad |
| author_sort | Shahin Koomanaee |
| collection | DOAJ |
| description |
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder with homozygous or heterozygous mutations in one of the five following genes (ORC1, ORC4, ORC6, CDT1, and CDC6). This syndrome is characterized by the triad of short stature (pre/postnatal), microtia, and patella hypoplasia/aplasia. Special features included microcephaly, microstomia, full lips, micrognathia, narrow convex, and high nasal bridge nose. Also, it may be accompanied by feeding problems, skeletal disorders, urogenital or respiratory anomalies, and intelligence disorders. This case report describes the first Persian MGS accompanied by neonatal seizure, mental retardation, and attention deficit hyperactivity disorder.
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| first_indexed | 2024-04-12T06:38:25Z |
| format | Article |
| id | doaj.art-c19c7dd67ee945e3b31aea0b7d348cca |
| institution | Directory Open Access Journal |
| issn | 0044-6025 1735-9694 |
| language | English |
| last_indexed | 2024-04-12T06:38:25Z |
| publishDate | 2022-11-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Acta Medica Iranica |
| spelling | doaj.art-c19c7dd67ee945e3b31aea0b7d348cca2022-12-22T03:43:48ZengTehran University of Medical SciencesActa Medica Iranica0044-60251735-96942022-11-0160910.18502/acta.v60i9.11102An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of LiteratureShahin Koomanaee0Setila Dalili1Seyyedeh Azade Hoseini Nouri2Seyedeh Zohreh Jalali3Manijeh Tabrizi4Ghazaleh Aldaghi5Afagh Hassanzadeh Rad6Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, IranPediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, IranPediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, IranPediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, IranPediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, IranPediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, IranPediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder with homozygous or heterozygous mutations in one of the five following genes (ORC1, ORC4, ORC6, CDT1, and CDC6). This syndrome is characterized by the triad of short stature (pre/postnatal), microtia, and patella hypoplasia/aplasia. Special features included microcephaly, microstomia, full lips, micrognathia, narrow convex, and high nasal bridge nose. Also, it may be accompanied by feeding problems, skeletal disorders, urogenital or respiratory anomalies, and intelligence disorders. This case report describes the first Persian MGS accompanied by neonatal seizure, mental retardation, and attention deficit hyperactivity disorder. https://acta.tums.ac.ir/index.php/acta/article/view/10123Meier-Gorlin syndromeSeizuresIntellectual disabilityNeonatal seizureAttention deficit disorder with hyperactivity |
| spellingShingle | Shahin Koomanaee Setila Dalili Seyyedeh Azade Hoseini Nouri Seyedeh Zohreh Jalali Manijeh Tabrizi Ghazaleh Aldaghi Afagh Hassanzadeh Rad An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature Acta Medica Iranica Meier-Gorlin syndrome Seizures Intellectual disability Neonatal seizure Attention deficit disorder with hyperactivity |
| title | An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature |
| title_full | An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature |
| title_fullStr | An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature |
| title_full_unstemmed | An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature |
| title_short | An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature |
| title_sort | 11 year old girl with rare diagnosis of meier gorlin syndrome accompanied by neonatal seizure mental retardation and attention deficit hyperactivity disorder a case report and review of literature |
| topic | Meier-Gorlin syndrome Seizures Intellectual disability Neonatal seizure Attention deficit disorder with hyperactivity |
| url | https://acta.tums.ac.ir/index.php/acta/article/view/10123 |
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