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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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Name: AJP reports
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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.
A stricture of the ESOPHAGUS. Most are acquired but can be congenital.
A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
The ratio of maximum blood flow to the MYOCARDIUM with CORONARY STENOSIS present, to the maximum equivalent blood flow without stenosis. The measurement is commonly used to verify borderline stenosis of CORONARY ARTERIES.
A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY.
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...