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KMID : 0857220040080020442
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Journal of the Korean Pediatric Cardiology Society
2004 Volume.8 No. 2 p.442 ~ p.446
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A Case of Ritscher-Schinzel Syndrome
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Lee Hyoung-Doo
Ban Ji-Eun
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Abstract
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Ritscher-Schinzel(3C) syndrome is rare, autosomal recessive syndrome characterized by craniofacial, cerebellar and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetralogy of Fallot, double outlet right ventricle, hypoplastic left heart syndrome, aortic stenosis, pulmonary stenosis and other valvular anomalies. Central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia and enlargement of the cisterna magna. Craniofacial abnormalities seen are cleft palate, ocular coloboma, frontal and occipital prominency, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge and micrognathia. We report a case of Ritscher-Schinzel syndrome in a male neonate who presented with Tetralogy of Fallot without pulmonary valve, cerebellar vermis hypoplasia, ocular coloboma, hypertelorism, cleft lip, cleft palate and clinodactyly.
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KEYWORD
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Ritsczher Schinzel syndrome, Tetralogy of Fallot, Dandy Walker malformation, Coloboma
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