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A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome.
- Source :
-
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2012; Vol. 23 (3), pp. 383-7. - Publication Year :
- 2012
-
Abstract
- 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.
- Subjects :
- Abnormalities, Multiple genetics
Abnormalities, Multiple physiopathology
Craniofacial Abnormalities genetics
Craniofacial Abnormalities physiopathology
Dandy-Walker Syndrome genetics
Dandy-Walker Syndrome physiopathology
Female
Heart Septal Defects, Atrial genetics
Heart Septal Defects, Atrial physiopathology
Humans
Infant, Newborn
Infant, Premature
Infant, Premature, Diseases
Respiratory Distress Syndrome, Newborn complications
Bronchopulmonary Dysplasia etiology
Craniofacial Abnormalities complications
Dandy-Walker Syndrome complications
Heart Septal Defects, Atrial complications
Respiratory Distress Syndrome, Newborn etiology
Subjects
Details
- Language :
- English
- ISSN :
- 1015-8146
- Volume :
- 23
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Genetic counseling (Geneva, Switzerland)
- Publication Type :
- Academic Journal
- Accession number :
- 23072186