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Year : 2014  |  Volume : 3  |  Issue : 3  |  Page : 275-278

Johnson-McMillin microtia syndrome: New additional family

1 Department of Children with Special Needs, Medical Division, National Research Centre, Cairo, Egypt
2 Department of Ear Nose and Throat, Faculty of Medicine, Cairo University, Cairo, Egypt

Correspondence Address:
Ola Hosny Gebril
Department of Children with Special Needs, Medical Division, National Research Centre, 12622 Elbehoos Street,
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Source of Support: This case study was funded by institutional budget for clinic of children with special needs., Conflict of Interest: None

DOI: 10.4103/2249-4863.141639

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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.

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