Cassia Stocco dos Santos syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
Cassia Stocco dos Santos syndrome is autosomal recessive | Cassia Stocco dos Santos syndrome is autosomal recessive disease with characteristic features of anophthalmia, megalocornea, cardiopathy and skeletal anomalies with the age of onset of infancy and neonates and the prevalence rate of <1 / 1 000 000.<ref>http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3191&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1101&Disease%28s%29/group%20of%20diseases=Cassia-Stocco-dos-Santos-syndrome&title=Cassia-Stocco-dos-Santos-syndrome&search=Disease_Search_Simple</ref> | ||
==Pathophysiology== | |||
Cassia Stocco dos Santos syndrome is inherited as an autosomal recessive disease.<ref>http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3191&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1101&Disease%28s%29/group%20of%20diseases=Cassia-Stocco-dos-Santos-syndrome&title=Cassia-Stocco-dos-Santos-syndrome&search=Disease_Search_Simple</ref> | |||
==Diagnosis== | |||
===Symptoms=== | |||
Cassia Stocco dos Santos syndrome is characterised by anophthalmia, megalocornea, cardiopathy and skeletal anomalies.<ref>http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3191&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1101&Disease%28s%29/group%20of%20diseases=Cassia-Stocco-dos-Santos-syndrome&title=Cassia-Stocco-dos-Santos-syndrome&search=Disease_Search_Simple</ref> | |||
==References== | |||
{{reflist|2}} | |||
Latest revision as of 19:46, 21 December 2015
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]
Overview
Cassia Stocco dos Santos syndrome is autosomal recessive disease with characteristic features of anophthalmia, megalocornea, cardiopathy and skeletal anomalies with the age of onset of infancy and neonates and the prevalence rate of <1 / 1 000 000.[1]
Pathophysiology
Cassia Stocco dos Santos syndrome is inherited as an autosomal recessive disease.[2]
Diagnosis
Symptoms
Cassia Stocco dos Santos syndrome is characterised by anophthalmia, megalocornea, cardiopathy and skeletal anomalies.[3]
References
- ↑ http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3191&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1101&Disease%28s%29/group%20of%20diseases=Cassia-Stocco-dos-Santos-syndrome&title=Cassia-Stocco-dos-Santos-syndrome&search=Disease_Search_Simple
- ↑ http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3191&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1101&Disease%28s%29/group%20of%20diseases=Cassia-Stocco-dos-Santos-syndrome&title=Cassia-Stocco-dos-Santos-syndrome&search=Disease_Search_Simple
- ↑ http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3191&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1101&Disease%28s%29/group%20of%20diseases=Cassia-Stocco-dos-Santos-syndrome&title=Cassia-Stocco-dos-Santos-syndrome&search=Disease_Search_Simple