Improving the Recognition of Temple Syndrome
It can be difficult at presentation to distinguish TS from other causes of neonatal hypotonia and failure to thrive. Genetic testing based on ratiometric measurement of methylated and unmethylated DNA within the DMR can be used as a screening test. 14q32 testing should be included in the first-line testing for children presenting with intrauterine growth retardation, hypotonia and poor feeding. In view of the overlap with Prader–Willi syndrome, TS testing should be performed in all cases of neonatal hypotonia. TS should also be considered as a cause of early puberty and unexplained proportional short stature.
Clinical Testing
It can be difficult at presentation to distinguish TS from other causes of neonatal hypotonia and failure to thrive. Genetic testing based on ratiometric measurement of methylated and unmethylated DNA within the DMR can be used as a screening test. 14q32 testing should be included in the first-line testing for children presenting with intrauterine growth retardation, hypotonia and poor feeding. In view of the overlap with Prader–Willi syndrome, TS testing should be performed in all cases of neonatal hypotonia. TS should also be considered as a cause of early puberty and unexplained proportional short stature.
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