A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome.
Ritscher-Schinzel also known as cranio-cerebello-cardiac (3C) syndrome is a very rare clinical entity. The striking features of this syndrome are cerebellar, cardiac and craniofacial abnormalities. Life threatening features of this syndrome are generally associated with cardiac abnormalities. We here present prolonged respiratory problems due to pulmonary hypertension in a preterm baby with Ritscher-Schinzel syndrome.
Zekai Tahir Burak Maternity Teaching Hospital, Department of Neonatology, Ankara, Turkey. sdkyurttutan@gmail.com
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Yurttutan
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MY
Oncel
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Yurttutan
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N
Altug
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O
Erdeve
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Dilmen
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D001997:Bronchopulmonary Dysplasia / Q000209:etiology*; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D003616:Dandy-Walker Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications / Q000209:etiology*