Johnson-McMillin microtia syndrome: New additional family
Microtia is a congenital anomaly that is found with different prevalence among various populations. The exact etiology of ear anomalies is still unknown. We describe a new additional family with this rare disorder; Johnson-McMillin syndrome (JMS) where mother, son, and distant grandmother have multi...
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Wolters Kluwer Medknow Publications
2014-01-01
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Online Access: | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2014;volume=3;issue=3;spage=275;epage=278;aulast=Abdel-Meguid |
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doaj-1111b6bb85694c94b35c29968adb71642020-11-24T23:59:04ZengWolters Kluwer Medknow PublicationsJournal of Family Medicine and Primary Care2249-48632014-01-013327527810.4103/2249-4863.141639Johnson-McMillin microtia syndrome: New additional familyNagwa Abdel-MeguidOla Hosny GebrilEhab Ragaa AbdelraoufMohammed Akmal ShafieMohammed BahgatMicrotia is a congenital anomaly that is found with different prevalence among various populations. The exact etiology of ear anomalies is still unknown. We describe a new additional family with this rare disorder; Johnson-McMillin syndrome (JMS) where mother, son, and distant grandmother have multiple features of JMS in the form of microtia, facial asymmetry, ear malformation, hearing defect, and hypotrichosis. Variable presentations in this family could be referred to phenotype variation supporting an autosomal dominant pattern of inheritance. We observed that the mother was very sad and suffered from feelings of guilt. We found that she had isolated herself from family and community out of fear of being stigmatized and hurt. We concluded that the occurrence of microtia is of public health importance, adhering to traditional marriage customs in Egypt increases women′s risk of giving birth to a disabled child, yet the mothers are blamed and shamed for their children′s birth defects by their husbands, families, and communities, while the fathers are not stigmatized.http://www.jfmpc.com/article.asp?issn=2249-4863;year=2014;volume=3;issue=3;spage=275;epage=278;aulast=Abdel-MeguidCongential anomaliesJohnson-McMillin syndromemicrotianeuroectodermal |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Nagwa Abdel-Meguid Ola Hosny Gebril Ehab Ragaa Abdelraouf Mohammed Akmal Shafie Mohammed Bahgat |
spellingShingle |
Nagwa Abdel-Meguid Ola Hosny Gebril Ehab Ragaa Abdelraouf Mohammed Akmal Shafie Mohammed Bahgat Johnson-McMillin microtia syndrome: New additional family Journal of Family Medicine and Primary Care Congential anomalies Johnson-McMillin syndrome microtia neuroectodermal |
author_facet |
Nagwa Abdel-Meguid Ola Hosny Gebril Ehab Ragaa Abdelraouf Mohammed Akmal Shafie Mohammed Bahgat |
author_sort |
Nagwa Abdel-Meguid |
title |
Johnson-McMillin microtia syndrome: New additional family |
title_short |
Johnson-McMillin microtia syndrome: New additional family |
title_full |
Johnson-McMillin microtia syndrome: New additional family |
title_fullStr |
Johnson-McMillin microtia syndrome: New additional family |
title_full_unstemmed |
Johnson-McMillin microtia syndrome: New additional family |
title_sort |
johnson-mcmillin microtia syndrome: new additional family |
publisher |
Wolters Kluwer Medknow Publications |
series |
Journal of Family Medicine and Primary Care |
issn |
2249-4863 |
publishDate |
2014-01-01 |
description |
Microtia is a congenital anomaly that is found with different prevalence among various populations. The exact etiology of ear anomalies is still unknown. We describe a new additional family with this rare disorder; Johnson-McMillin syndrome (JMS) where mother, son, and distant grandmother have multiple features of JMS in the form of microtia, facial asymmetry, ear malformation, hearing defect, and hypotrichosis. Variable presentations in this family could be referred to phenotype variation supporting an autosomal dominant pattern of inheritance. We observed that the mother was very sad and suffered from feelings of guilt. We found that she had isolated herself from family and community out of fear of being stigmatized and hurt. We concluded that the occurrence of microtia is of public health importance, adhering to traditional marriage customs in Egypt increases women′s risk of giving birth to a disabled child, yet the mothers are blamed and shamed for their children′s birth defects by their husbands, families, and communities, while the fathers are not stigmatized. |
topic |
Congential anomalies Johnson-McMillin syndrome microtia neuroectodermal |
url |
http://www.jfmpc.com/article.asp?issn=2249-4863;year=2014;volume=3;issue=3;spage=275;epage=278;aulast=Abdel-Meguid |
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