Cerebello-Cardiac) Syndrome: Case Report

نویسندگان

  • Sibila Nankovic
  • Sanja Hajnsek
  • Zeljka Petelin
  • Andreja Bujan Kovac
  • Vlatko Sulentic
چکیده

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 all over the world, mostly from North America and Europe, mostly in the age of 6 and the oldest patient was 21 years old. In 2001, Leonardi et al. proposed criteria for the diagnosis of 3C ("Cranio-cerebello-cardiac") syndrome in a chromosomally normal sporadic cases Table 1 (3). Clinically the disorder consists of: 1. various forms of craniofacial anomalies, as well as sceletal malformations of other parts, including cleft palate, ocular coloboma, prominent forehead or occiput, hypertelorism, depressed nasal bridge, micrognathia, down-slanting palpeberal fissurae; 2. cardiac malformations (ventricular or atrial septal defect, tetralogy of Fallot, hipoplastic left heart, aortic or pulmonary stenosis, and other forms of valvular anomalies), 3. anomalies of the central nervous system, including Dandy-Walker malformation, vermis hypoplasia and enlargement or posterior fossa cyst. Criteria to establish certain diagnosis inculde presence of a cardiac malformation, described malformations of posterior cranial fossa, cleft palate or ocular coloboma or 4 of these other forms of craniofacial anomalies previously mentioned.

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تاریخ انتشار 2012