Angelman syndrome and hypothyroidism - coincidence or unique correlation?

被引：0

作者：

Paprocka, Justyna ^{[2
]}

Jamroz, Ewa ^{[2
]}

Kalina, Maria ^{[1
]}

Kalina-Faska, Barbara ^{[1
]}

Malecka-Tendera, Ewa ^{[1
]}

Marszal, Elzbieta ^{[2
]}

机构：

[1] Silesian Med Univ, Dept Paediat Endocrinol & Diabet, Katowice, Poland

[2] Silesian Med Univ, Child Neurol Dept, Katowice, Poland

来源：

NEUROENDOCRINOLOGY LETTERS | 2007年 / 28卷 / 05期

关键词：

Angelman syndrome; hypoparathyroidism; children;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：545 / 546

页数：2

共 50 条

[21] Unique Retrotransposon LINE-1 Distribution at the Prader–Willi Angelman Syndrome Locus
Chauncey W. Bowers
Judith Singer-Sam
Journal of Molecular Evolution, 2007, 65 : 475 - 484
[22] Angelman syndrome: A novel UBE3A mutation and a unique variant phenotype.
Johnson, E
JOURNAL OF INVESTIGATIVE MEDICINE, 2006, 54 (01) : S146 - S146
[23] Correlation of Subclinical Hypothyroidism With Polycystic Ovary Syndrome (PCOS)
Fatima, Murk
Amjad, Sofia
Ali, Habiba Sharaf, Sr.
Ahmed, Tousif
Khan, Shabnam
Raza, Marvi
Inam, Mahreen
CUREUS JOURNAL OF MEDICAL SCIENCE, 2020, 12 (05)
[24] Myoclonus in Angelman syndrome
Pollack, Sarah F.
Grocott, Olivia R.
Parkin, Kimberly A.
Larson, Anna M.
Thibert, Ronald L.
EPILEPSY & BEHAVIOR, 2018, 82 : 170 - 174
[25] Epilepsy in Angelman syndrome
Thibert, Ronald L.
Conant, K. D.
Braun, E. K.
Bruno, P. L.
Nespeca, M. P.
Said, R. R.
Thiele, E. A.
EPILEPSIA, 2007, 48 : 72 - 72
[26] Angelman syndrome in adulthood
Laan, LAEM
denBoer, AT
Hennekam, RCM
Renier, WO
Brouwer, OF
AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 66 (03): : 356 - 360
[27] Anesthesia and Angelman syndrome
Witte, W.
Nobel, C.
Hilpert, J.
ANAESTHESIST, 2011, 60 (07): : 633 - 640
[28] Angelman Syndrome in Adulthood
Larson, Anna M.
Shinnick, Julianna E.
Shaaya, Elias A.
Thiele, Elizabeth A.
Thibert, Ronald L.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (02) : 331 - 344
[29] HYPOPIGMENTATION IN ANGELMAN SYNDROME
KING, RA
WIESNER, GL
TOWNSEND, D
WHITE, JG
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (01): : 40 - 44
[30] Epilepsy and Angelman syndrome
Ruggieri, M
Allen, R
Pryor, A
McShane, MA
ANNALS OF NEUROLOGY, 1996, 40 (02) : 63 - 63

← 1 2 3 4 5 →