Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome
<p dir="ltr">Sotos syndrome is characterized by overgrowth starting before birth through childhood with intellectual disability and craniofacial anomalies. The majority of patients are large for gestational age with developmental delay or intellectual disability. The majority of case...
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| مؤلفون آخرون: | , , , , , , , , |
| منشور في: |
2021
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| _version_ | 1864513566231494656 |
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| author | Matheus Augusto Araújo Castro (7368116) |
| author2 | Juliana Heather Vedovato Santos (14776978) Rachel Sayuri Honjo (12686317) Guilherme Lopes Yamamoto (6048365) Débora Romeo Bertola (6048368) Anna C. Hurst (14776981) Lynn P. Chorich (14776984) Lawrence C. Layman (13913559) Chong Ae Kim (7503338) Hyung‐Goo Kim (14776987) |
| author2_role | author author author author author author author author author |
| author_facet | Matheus Augusto Araújo Castro (7368116) Juliana Heather Vedovato Santos (14776978) Rachel Sayuri Honjo (12686317) Guilherme Lopes Yamamoto (6048365) Débora Romeo Bertola (6048368) Anna C. Hurst (14776981) Lynn P. Chorich (14776984) Lawrence C. Layman (13913559) Chong Ae Kim (7503338) Hyung‐Goo Kim (14776987) |
| author_role | author |
| dc.creator.none.fl_str_mv | Matheus Augusto Araújo Castro (7368116) Juliana Heather Vedovato Santos (14776978) Rachel Sayuri Honjo (12686317) Guilherme Lopes Yamamoto (6048365) Débora Romeo Bertola (6048368) Anna C. Hurst (14776981) Lynn P. Chorich (14776984) Lawrence C. Layman (13913559) Chong Ae Kim (7503338) Hyung‐Goo Kim (14776987) |
| dc.date.none.fl_str_mv | 2021-08-18T06:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1002/ajmg.a.62454 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Twenty_year_follow_up_of_the_facial_phenotype_of_Brazilian_patients_with_Sotos_syndrome/22257490 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences DNA mutational analysis facial dysmorphism gigantism NSD1 Sotos syndrome |
| dc.title.none.fl_str_mv | Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Sotos syndrome is characterized by overgrowth starting before birth through childhood with intellectual disability and craniofacial anomalies. The majority of patients are large for gestational age with developmental delay or intellectual disability. The majority of cases are caused by pathogenic variants in <i>NSD1</i>. The most consistent physical features in this disorder are facial dysmorphisms including prominent forehead, downslanted palpebral fissures, prognathism with a pointed chin, and a long and narrow face. We present a follow-up to a cohort of 11 individuals found to harbor heterozygous, pathogenic, or likely pathogenic variants in <i>NSD1</i>. We analyzed the facial dysmorphisms and the condition using retrospective over 20 years. Among these patients, followed in our medical genetics outpatient clinic for variable periods of time, all had a phenotype compatible with the characteristic Sotos syndrome facial features, which evolved with time and became superimposed with natural aging modifications. We present here a long-term follow-up of facial features of Brazilian patients with molecularly confirmed Sotos syndrome. In this largest Brazilian cohort of molecularly confirmed patients with Sotos syndrome to date, we provide a careful description of the facial phenotype, which becomes less pronounced with aging and possibly more difficult to recognize in adults. These results may have broad clinical implications for diagnosis and add to the global clinical delineation of this condition.</p><h2>Other Information</h2><p dir="ltr">Published in: American Journal of Medical Genetics Part A<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1002/ajmg.a.62454" target="_blank">http://dx.doi.org/10.1002/ajmg.a.62454</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_de0d35ef752fe244b078931430cf92db |
| identifier_str_mv | 10.1002/ajmg.a.62454 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/22257490 |
| publishDate | 2021 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndromeMatheus Augusto Araújo Castro (7368116)Juliana Heather Vedovato Santos (14776978)Rachel Sayuri Honjo (12686317)Guilherme Lopes Yamamoto (6048365)Débora Romeo Bertola (6048368)Anna C. Hurst (14776981)Lynn P. Chorich (14776984)Lawrence C. Layman (13913559)Chong Ae Kim (7503338)Hyung‐Goo Kim (14776987)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesDNA mutational analysisfacial dysmorphismgigantismNSD1Sotos syndrome<p dir="ltr">Sotos syndrome is characterized by overgrowth starting before birth through childhood with intellectual disability and craniofacial anomalies. The majority of patients are large for gestational age with developmental delay or intellectual disability. The majority of cases are caused by pathogenic variants in <i>NSD1</i>. The most consistent physical features in this disorder are facial dysmorphisms including prominent forehead, downslanted palpebral fissures, prognathism with a pointed chin, and a long and narrow face. We present a follow-up to a cohort of 11 individuals found to harbor heterozygous, pathogenic, or likely pathogenic variants in <i>NSD1</i>. We analyzed the facial dysmorphisms and the condition using retrospective over 20 years. Among these patients, followed in our medical genetics outpatient clinic for variable periods of time, all had a phenotype compatible with the characteristic Sotos syndrome facial features, which evolved with time and became superimposed with natural aging modifications. We present here a long-term follow-up of facial features of Brazilian patients with molecularly confirmed Sotos syndrome. In this largest Brazilian cohort of molecularly confirmed patients with Sotos syndrome to date, we provide a careful description of the facial phenotype, which becomes less pronounced with aging and possibly more difficult to recognize in adults. These results may have broad clinical implications for diagnosis and add to the global clinical delineation of this condition.</p><h2>Other Information</h2><p dir="ltr">Published in: American Journal of Medical Genetics Part A<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1002/ajmg.a.62454" target="_blank">http://dx.doi.org/10.1002/ajmg.a.62454</a></p>2021-08-18T06:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1002/ajmg.a.62454https://figshare.com/articles/journal_contribution/Twenty_year_follow_up_of_the_facial_phenotype_of_Brazilian_patients_with_Sotos_syndrome/22257490CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/222574902021-08-18T06:00:00Z |
| spellingShingle | Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome Matheus Augusto Araújo Castro (7368116) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences DNA mutational analysis facial dysmorphism gigantism NSD1 Sotos syndrome |
| status_str | publishedVersion |
| title | Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome |
| title_full | Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome |
| title_fullStr | Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome |
| title_full_unstemmed | Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome |
| title_short | Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome |
| title_sort | Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences DNA mutational analysis facial dysmorphism gigantism NSD1 Sotos syndrome |