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Today's Terms
Muenke syndrome
Definition:
The primary feature of this disease is prematurely fused skull bones along the coronal suture, the growth line which goes over the head from ear to ear. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones.
Cardiovascular Birth Defect
Definition:
Conotruncal heart defects, septal heart defects, obstructive heart defects, atrioventricular septal defects, single ventricle, anomalous pulmonary venous return, heterotaxy, Ebstein malformation.
Beare-Stevenson cutis gyrata syndrome
Definition:
Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.
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