Johnson-McMillin microtia syndrome: New additional family

Abstract

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.

Keywords

• Congential anomalies
• Johnson-McMillin syndrome
• microtia
• neuroectodermal