Angelman syndrome and hypothyroidism - coincidence or unique correlation?
Paprocka, J.; Jamroz, E.; Kalina, M.; Kalina-Faska, B.; Malecka-Tendera, E.; Marszal, E.
Neuro Endocrinology Letters 28(5): 545-546
2007
ISSN/ISBN: 0172-780X PMID: 17984955 Document Number: 614252
Angelman Syndrome (AS, MIM 105830), classified among neurogenetic disorders, occurs with estimated frequency of 1:10 000 to 1:40 000. The characteristics features apart from neurodevelopmental impairment and seizures include peculiar face traits, absent speech, outburst of laughter, ataxia, stereotyped jerky (puppet-like) movements. The authors report three children with Angelman syndrome who were also diagnosed with hypothyroidism.