Agnathia–otocephaly complex: A case report and examination of the OTX2 and PRRX1 genes

The location of the fetal ears: A hint for prenatal diagnosis of agnathia‐otocephaly complex

“…Recent advances in molecular genetics enabled identification of two responsible genes -OTX2 and PRRX1 but in most cases of agnathia-otocephaly the molecular basis remains obscure. 1,8,9 To conclude, agnathia-otocephaly is an extremely rare lethal congenital anomaly with a sporadic occurrence in the majority of cases.…”

“…The karyotype is typically normal as in our case. Recent advances in molecular genetics enabled identification of two responsible genes ‐ OTX2 and PRRX1 but in most cases of agnathia‐otocephaly the molecular basis remains obscure …”

An Evidence-Based Algorithm for Managing Syndromic Craniosynostosis in the Era of Posterior Vault Distraction Osteogenesis

“…[1][2][3][4][5] We report our single-institution, long-term follow-up on 4 patients, present our reconstructive experience and suggest a management strategy. The spectrum of this rare syndrome extends from patients born without a mandible, agnathia--to patients with micrognathia.…”

Prenatal diagnosis and physical model reconstruction of agnathia–otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester

“…Agnathia–otocephaly is characterized by the absence of the lower jaw and abnormally positioned ears . This disease occurs between 4 and 8 weeks of embryologic development as a consequence of failed mesenchymal migration of the maxillary prominence, and atrophy in the development of the mandibular prominences . The disease can be inherited as autosomal dominant or autosomal recessive and has an estimated incidence of 1 per 70 000 live borns .…”