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Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate.

08:00 EDT 1st October 2015 | BioPortfolio

Summary of "Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate."

Background Holoprosencephaly (HPE) is often accompanied by a deficit in midline facial development; however, congenital oropharyngeal stenosis in neonates with HPE has not been reported before. We describe a case of a neonate with prenatally diagnosed semilobar HPE accompanied by congenital oropharyngeal stenosis. Case Report The patient was born at 39 weeks of gestation and developed dyspnea shortly after. Laryngoscopic test revealed oropharyngeal stenosis. Nasal continuous positive airway pressure, high-flow nasal cannula, and nasopharyngeal airway did not resolve her dyspnea; tracheostomy was required. Conclusion Neonates with HPE might be at higher risk of pharyngeal stenosis because of the functional and/or anatomical abnormalities. In the case of dyspnea in neonates with HPE, laryngoscopic evaluation should be considered.

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This article was published in the following journal.

Name: AJP reports
ISSN: 2157-6998
Pages: e109-10

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Medical and Biotech [MESH] Definitions

Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe MENTAL RETARDATION; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of mental retardation. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild mental retardation to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.

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