Ehlers-Danlos syndrome: what the radiologist needs to know

被引:3
作者
George, Michael P. [1 ]
Shur, Natasha E. [2 ]
Perez-Rossello, Jeannette M. [1 ]
机构
[1] Harvard Med Sch, Boston Childrens Hosp, Radiol Dept, 300 Longwood Ave, Boston, MA 02115 USA
[2] Childrens Natl Hosp, Rare Dis Inst, Washington, DC USA
关键词
Child abuse; Children; Ehlers-Danlos syndrome; Fractures; Infants; Non-accidental trauma; Radiography; CHILD-ABUSE; OSTEOGENESIS IMPERFECTA; SKULL FRACTURES; FLAWED THEORIES; HYPERMOBILITY; POPULATION; MUTATIONS; DIAGNOSIS; RARE;
D O I
10.1007/s00247-020-04856-1
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Ehlers-Danlos syndrome is a real diagnosis that is erroneously used to explain multiple fractures in suspected child abuse. This paper reviews the clinical and molecular diagnostic criteria for Ehlers-Danlos syndrome. This knowledge can help prevent misdiagnosis and support clinicians when evaluating infants and young children with multiple fractures.
引用
收藏
页码:1023 / 1028
页数:6
相关论文
共 48 条
[1]  
American Cancer Society, 2020, CANC A Z
[2]  
American Cancer Society, 2018, CANC A Z
[3]   Multiple Congenital Skull Fractures as a Presentation of Ehlers-Danlos Syndrome Type VIIC [J].
Bar-Yosef, Omer ;
Polak-Charcon, Sylvic ;
Hoffman, Chen ;
Feldman, Zeev P. ;
Frydman, Moshe ;
Kuint, Jacob .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (23) :3054-3057
[4]   Bone Disease in Patients with Ehlers-Danlos Syndromes [J].
Basalom, Shuaa ;
Rauch, Frank .
CURRENT OSTEOPOROSIS REPORTS, 2020, 18 (02) :95-102
[5]   ARTICULAR MOBILITY IN AN AFRICAN POPULATION [J].
BEIGHTON, P ;
SOLOMON, L ;
SOSKOLNE, CL .
ANNALS OF THE RHEUMATIC DISEASES, 1973, 32 (05) :413-418
[6]   The Ehlers-Danlos Syndromes, Rare Types [J].
Brady, Angela F. ;
Demirdas, Serwet ;
Fournel-Gigleux, Sylvie ;
Ghali, Neeti ;
Giunta, Cecilia ;
Kapferer-Seebacher, Ines ;
Kosho, Tomoki ;
Mendoza-Londono, Roberto ;
Pope, Michael F. ;
Rohrbach, Marianne ;
Van Damme, Tim ;
Vandersteen, Anthony ;
Van Mourik, Caroline ;
Voermans, Nicol ;
Zschocke, Johannes ;
Malfait, Fransiska .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2017, 175 (01) :70-115
[7]   Beyond Osteogenesis Imperfecta: Causes of Fractures During Infancy and Childhood [J].
Bronicki, Lucas M. ;
Stevenson, Roger E. ;
Spranger, Juergen W. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2015, 169 (04) :314-327
[8]   Society for Pediatric Radiology (SPR) Child Abuse Committee response regarding Miller, Stolfi and Ayoub's flawed theories about child abuse and metabolic bone disease [J].
Brown, Stephen D. ;
Moreno, Joelle A. ;
Shur, Natasha ;
Servaes, Sabah .
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2020, 33 (04) :547-548
[9]   Ehlers-Danlos syndrome: A showcase of conditions that lead to understanding matrix biology [J].
Byers, Peter H. ;
Murray, Mitzi L. .
MATRIX BIOLOGY, 2014, 33 :10-15
[10]   Ehlers-Danlos Syndrome(s) Mimicking Child Abuse: Is There an Impact on Clinical Practice? (vol 169, pg 289, 2015) [J].
Castori, Marco .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (07) :1947-1947