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A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization
Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertili...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Medical Sciences
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3468768/ https://www.ncbi.nlm.nih.gov/pubmed/23091329 http://dx.doi.org/10.3346/jkms.2012.27.10.1269 |
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author | Son, Su Bin Chun, Jung Mi Kim, Kyung Ah Ko, Sun Young Lee, Yeon Kyung Shin, Son Moon |
author_facet | Son, Su Bin Chun, Jung Mi Kim, Kyung Ah Ko, Sun Young Lee, Yeon Kyung Shin, Son Moon |
author_sort | Son, Su Bin |
collection | PubMed |
description | Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination. |
format | Online Article Text |
id | pubmed-3468768 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | The Korean Academy of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-34687682012-10-22 A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization Son, Su Bin Chun, Jung Mi Kim, Kyung Ah Ko, Sun Young Lee, Yeon Kyung Shin, Son Moon J Korean Med Sci Case Report Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination. The Korean Academy of Medical Sciences 2012-10 2012-10-02 /pmc/articles/PMC3468768/ /pubmed/23091329 http://dx.doi.org/10.3346/jkms.2012.27.10.1269 Text en © 2012 The Korean Academy of Medical Sciences. http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Son, Su Bin Chun, Jung Mi Kim, Kyung Ah Ko, Sun Young Lee, Yeon Kyung Shin, Son Moon A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization |
title | A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization |
title_full | A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization |
title_fullStr | A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization |
title_full_unstemmed | A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization |
title_short | A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization |
title_sort | case report on 30-week premature twin babies with congenital myotonic dystrophy conceived by in vitro fertilization |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3468768/ https://www.ncbi.nlm.nih.gov/pubmed/23091329 http://dx.doi.org/10.3346/jkms.2012.27.10.1269 |
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