Ritscher – Schinzel Syndrome – 3C (Cranio- Cerebello-Cardiac) Syndrome: Case Report

نویسندگان

  • Sibila Nankovic
  • Sanja Hajnsek
  • Zeljka Petelin
  • Andreja Bujan Kovac
  • Vlatko Sulentic
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Cerebello-Cardiac) Syndrome: Case Report

Ritscher-Schinzel syndrome was first described 1987, in the case of two sisters of healthy parents who have had posterior fossa malformations, congenital heart defects and craniofacial anomalies (5). It is believed that this is an autosomal recessive hereditary disorder. So far, according to ORD data (Office of Rare Disease of the National Institutes of Health), only about 30 cases are reported...

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تاریخ انتشار 2017