Angelman syndrome and hypothyroidism - coincidence or unique correlation?
Case Reports
2007; 28(5): 545-546
PubMed PMID: 17984955
Citation
Keywords:
Adolescent, Angelman Syndrome:complications, Child, Preschool, Chromosomes, Human, Pair 15:genetics, Humans, Hypothyroidism:blood, Immunoglobulins, Thyroid-Stimulating:blood, Sequence Deletion, Thyroxine:therapeutic use,.
: 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....
Citation
Paprocka J, Jamroz E, Kalina M, Kalina-Faska B, Malecka-Tendera E, Marszal E. Angelman syndrome and hypothyroidism - coincidence or unique correlation? Neuro Endocrinol Lett. 2007 Oct; 28(5): 545-546