Agnathia-otocephaly complex

Definition:

Otocephaly, also referred to as agnathia-otocephaly complex, is an extremely rare lethal anomalad characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. The etiologic causes of otocephaly can be distinctly classified as a consequence of genetic and teratogenic factors. Recently, molecular genetic studies led to the identification of a loss of function genetic mutation in the PRRX1 gene. Teratogenic factors include smoking, alcohol usage, or even an exposure to radiation can increase the risk. In addition, other chemicals/drugs like streptonigrin antibiotics, trypan blue, theophylline, beclomethasone, salicylates, amidopyrine, mycophenolate, and phenytoin may increase the risk among pregnancies.

References:

[1]. C Sergi, et al. PRRX1 is mutated in a fetus with agnathia-otocephaly. Clin Genet. 2011 Mar;79(3):293-5. [Content Brief]

[2]. Jean Gekas, et al. Current perspectives on the etiology of agnathia-otocephaly. Eur J Med Genet. 2010 Nov-Dec;53(6):358-66. [Content Brief]

[3]. Ona Faye-Petersen, et al. Otocephaly: report of five new cases and a literature review. Fetal Pediatr Pathol. 2006 Sep-Oct;25(5):277-96. [Content Brief]

[4]. R M Pauli, et al. Familial agnathia-holoprosencephaly. Am J Med Genet. 1983 Apr;14(4):677-98. [Content Brief]

[5]. T Çelik, et al. PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents. Clin Genet. 2012 Mar;81(3):294-7. [Content Brief]

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