Neuro Endocrinol Lett. 2007 Oct;28(5):545-6.

Angelman syndrome and hypothyroidism - coincidence or unique correlation?

Paprocka J, Jamroz E, Kalina M, Kalina-Faska B, Malecka-Tendera E, Marszal E.

Source

Department of Child Neurology, Silesian Medical University, Katowice, Poland. jstyna.paprocka@interia.pl.

Abstract

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.

PMID:: 17984955; [PubMed - indexed for MEDLINE]

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