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Otocephaly: Agnathia Microstomia Synotia Syndrome - A Case Report

Onyesoh Chinyeaka .R, Okoye John.O, Nduji Oluchi. J, Okorie Elizabeth-Martha .C, Udeozor Lucy.C

Abstract: Otocaphaly is rare lethal malformation seen in 1:70000 births and is characterized by the association of agnathia (mandibular agenesis)/ mandibular hypoplasia, melotia (ventromedial/ auricular malposition) with or without auricular fusion (synotis) and microstomia. It is thought to be a consequence of first pharyngeal arch malformation resulting from failure of migration of neural crest cells from the hindbrainat4 weeks gestational age. Ventilatory difficulties typically lead to demise shortly after birth in affected babies. Prenatal diagnosis of Otocephaly and other rare congenital malformations relies on the availability of both expertise in imaging studies and the availability of 3D ultrasonography machines/MRI all of which are not readily available. Prenatal diagnosis is very important as it will facilitate appropriate parental counseling and enhance decision regarding intra-partum and immediate post-partum intervention. In resource-poor setting, even when these diagnostic facilities are available, it is not affordable by the majority of patients. Until universal health insurance is available to all, cost will continue to be a major hindrance to appropriate diagnosis and treatment in these settings.To the best of these authors? knowledge, no case of Otocephaly has been reported in Nigeria and West Africa. In this report we present a preterm female with Otocephaly-Agnathia Microstomia Synotia syndrome.

Keywords: Otocephaly Agnathia, developmental malformation, Prenatal diagnosis,Port-Harcourt

Country: Nigeria, Subject Area: Pediatric Specialty

Pages: 1605 - 1607

Edition: Volume 8 Issue 5, May 2019

How to Cite this Article?

Onyesoh Chinyeaka .R, Okoye John.O, Nduji Oluchi. J, Okorie Elizabeth-Martha .C, Udeozor Lucy.C, "Otocephaly: Agnathia Microstomia Synotia Syndrome - A Case Report", International Journal of Science and Research (IJSR), https://www.ijsr.net/archive/v8i5/show_abstract.php?id=ART20197540, Volume 8 Issue 5, May 2019, 1605 - 1607

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