Current perspectives on the etiology of agnathia-otocephaly.

  title={Current perspectives on the etiology of agnathia-otocephaly.},
  author={Jean Gekas and Bo Li and Deepak Kamnasaran},
  journal={European journal of medical genetics},
  volume={53 6},
Agnathia-otocephaly, a rare, sporadic and lethal malformation, is characterized by microstomia (small mouth), aglossia (absence of the tongue), agnathia (absence of the lower jaw) and abnormally positioned ears. It is a principal anomaly derived from the first pharyngeal arch as a consequence of failed mesenchymal migration of the maxillary prominence and atrophy in the development of the mandibular prominences. Unfortunately, these patients have poor prognoses and may succumb to death shortly… CONTINUE READING
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