Ontology highlight
ABSTRACT:
SUBMITTER: Abdel-Meguid N
PROVIDER: S-EPMC4209688 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
Abdel-Meguid Nagwa N Gebril Ola Hosny OH Abdelraouf Ehab Ragaa ER Shafie Mohammed Akmal MA Bahgat Mohammed M
Journal of family medicine and primary care 20140701 3
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 suppo ...[more]