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

[1] Angelman syndrome: Correlation and electroencephalographic monitoring
Cordero-Molina, Maria Fernanda
Escribano-Rober, Gloria
Carvajal-Game, Maritza
Gaete, Raquel
REVISTA MEXICANA DE NEUROCIENCIA, 2016, 17 (01): : 3 - 11
[2] Polymicrogyria in patient with Angelman Syndrome-coincidence or a new feature ?
Gieruszczak-Bialek, D.
Skorka, A.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 253 - 254
[3] DOWNS-SYNDROME AND HYPOTHYROIDISM - COINCIDENCE OR CONSEQUENCE
COLEMAN, M
ABBASSI, V
LANCET, 1984, 1 (8376): : 569 - 569
[4] Unique behavioral, genetic and molecular characteristics of Angelman Syndrome
Weeber, Edwin
NEUROTOXICOLOGY AND TERATOLOGY, 2018, 67 : 87 - 88
[5] EEG Patterns in Angelman Syndrome: Correlation with Genotype
Vendrame, Martina
Loddenkemper, Tobias
Zarowski, Marcin
Gregas, Matthew
Sarco, Dean
Morales, Augusto
Nespeca, Mark
Haas, Kevin
Barnes, Gregory
Glaze, Daniel
Kothare, Sanjeev
NEUROLOGY, 2011, 76 (09) : A226 - A226
[6] Split-cord malformation in a girl with Angelman syndrome: A mere coincidence?
Mastroyianni, SD
Kontopoulos, E
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 111 (01): : 57 - 60
[7] Coincidence of Graves' disease and Angelman syndrome in a 13 month old boy
Karremann, M.
Cseke-Friedrich, A.
Horneff, G.
KLINISCHE PADIATRIE, 2008, 220 (01): : 29 - 31
[8] HYPOTHYROIDISM AND CHEMODECTOMA IN FATHER AND DAUGHTER - A NEW SYNDROME OF A COINCIDENCE
HART, W
MAARTENSE, E
CLINICAL ENDOCRINOLOGY, 1992, 36 (03) : 295 - 296
[9] Hypothyroidism in a two and a half year-old boy with an Angelman Syndrome (AS)
Janchevska, Aleksandra
Bozinovski, Georgi
Jordanova, Olivera
Tasic, Velibor
Gucev, Zoran
HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 461 - 461
[10] Unique Features of the Gut Microbiome Characterized in Animal Models of Angelman Syndrome
Beitnere, Ulrika
Vilanova-Cuevas, Brayan
Christian, Sarah G.
Taylor, Clint
Berg, Elizabeth L.
Copping, Nycole A.
Dindot, Scott V.
Silverman, Jill L.
Gareau, Melanie G.
Segal, David J.
MSYSTEMS, 2023, 8 (01)

← 1 2 3 4 5 →