A patient with Phelan-McDermid syndrome and dilation of the great vessels

被引：6

作者：

Deibert, Emily ^{[1
]}

Crenshaw, Melissa ^{[2
]}

Miller, Michelle S. ^{[3
]}

机构：

[1] Florida State Univ, Coll Med, Tallahassee, FL USA

[2] Johns Hopkins All Childrens Hosp, Clin Genet, St Petersburg, FL USA

[3] Johns Hopkins All Childrens Hosp, Pediat Cardiol, St Petersburg, FL 33701 USA

来源：

CLINICAL CASE REPORTS | 2019年 / 7卷 / 04期

基金：

英国惠康基金;

关键词：

9q34; duplication; 22q13; deletion; aortic dilation; COL5A1; gene; Phelan-McDermid syndrome; SHANK3; vasculopathy; INTERSTITIAL; 22Q13; DELETIONS; PHENOTYPE; SHANK3; VALVE;

D O I：

10.1002/ccr3.2003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical Message We present a patient with Phelan-McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of progressive dilation of the great arteries. While congenital heart defects have been identified in patients previously, dilation of the great arteries has not been described to our knowledge.

引用

页码：607 / 611

页数：5

共 50 条

[1] Incontinence in Phelan-McDermid Syndrome
Witmer, Claire
Mattingly, Aviva
D'Souza, Precilla
Thurm, Audrey
Hadigan, Colleen
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2019, 69 (02): : E39 - E42
[2] Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome
Gluckman, Jake
Levy, Tess
Friedman, Kate
Garces, Francesca
Filip-Dhima, Rajna
Quinlan, Aisling
Iannotti, Isabelle
Pekar, Margaret
Hernandez, Alexandra Lopez
Nava, Madison T.
Kravets, Elijah
Siegel, Abigail
Bernstein, Jonathan A.
Berry-Kravis, Elizabeth
Powell, Craig M.
Soorya, Latha Valluripalli
Thurm, Audrey
Srivastava, Siddharth
Buxbaum, Joseph D.
Sahin, Mustafa
Kolevzon, Alexander
Gelb, Bruce D.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025, 197 (01)
[3] Growth in Phelan-McDermid Syndrome
Rollins, Jonathan D.
Sarasua, Sara M.
Phelan, Katy
DuPont, Barbara R.
Rogers, R. Curtis
Collins, Julianne S.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (09) : 2324 - 2326
[4] Anaesthesia recommendations for Phelan-McDermid syndrome
Abdallah, Claude
ANASTHESIOLOGIE & INTENSIVMEDIZIN, 2023, 64 : S288 - S294
[5] Understanding Behavior in Phelan-McDermid Syndrome
Landlust, Annemiek M.
Visser, Linda
Flapper, Boudien C. T.
Ruiter, Selma A. J.
Zwanenburg, Renee J.
van Ravenswaaij-Arts, Conny M. A.
van Balkom, Ingrid D. C.
FRONTIERS IN PSYCHIATRY, 2022, 13
[6] ADOLESCENTS WITH PHELAN-MCDERMID SYNDROME AND CATATONIA
Effron, Jill
Fulchiero, Erin
Lytle, Sarah
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2020, 59 (10): : S187 - S188
[7] The Neurological Manifestations of Phelan-McDermid Syndrome
Frank, Yitzchak
PEDIATRIC NEUROLOGY, 2021, 122 : 59 - 64
[8] Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome
Ahn, Hyunji
Seo, Go Hun
Keum, Changwon
Heo, Sun Hee
Kim, Taeho
Choi, Jeongmin
Yum, Mi-Sun
Lee, Beom Hee
BRAIN & DEVELOPMENT, 2020, 42 (05): : 414 - 417
[9] EXPERIMENTAL THERAPEUTICS IN PHELAN-MCDERMID SYNDROME
Kolevzon, Alexander
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2024, 63 (10): : S79 - S79
[10] Anaesthesia recommendations for Phelan-McDermid syndrome
Abdallah, Claude
ANASTHESIOLOGIE & INTENSIVMEDIZIN, 2023, 64

← 1 2 3 4 5 →