Saethre-Chotzen is one of the most frequent syndromes in congenital malformation. It is characterized by craniofacial and limb abnormalities and the incidence of this rare syndrome is estimated at between 1 in 25-50,000 live births. This autosomal dominant disorder is one of the most difficult to detect, and the identification of the causative gene TWIST1, a transcription factor on chromosome band 7p21.1, has proved invaluable for the detection.
Williams-Beuren Syndrome (WBS) is a developmental disorder caused by a microdeletion within band 7q11.23. WBS displays connective tissue problems; typically supravalvular aortic stenosis (SVAS), growth retardation, renal anomalies, transient hypercalcaemia, hyperacusis and mental retardation. Haploinsufficiency of the elastin (ELN) gene has been identified as being responsible for SVAS.
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