Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2007 Oct;28(5):545-6.

Angelman syndrome and hypothyroidism - coincidence or unique correlation?

Justyna Paprocka  1 , Ewa Jamroz, Maria Kalina, Barbara Kalina-Faska, Ewa Malecka-Tendera, Elzbieta Marszal
Affiliations
  • PMID: 17984955
Case Reports

Angelman syndrome and hypothyroidism - coincidence or unique correlation?

Justyna Paprocka et al. Neuro Endocrinol Lett. 2007 Oct.

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

  • Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
    Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Narita K, et al. Sci Rep. 2022 Aug 26;12(1):14589. doi: 10.1038/s41598-022-14161-6. Sci Rep. 2022. PMID: 36028527 Free PMC article.

Publication types

Substances

LinkOut - more resources