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 heal

SUBMITTER: Abdel-Meguid N 

PROVIDER: S-EPMC4209688 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature