Syndromes with overgrowth as the cardinal symptom

被引：0
|
作者：
Kuechler, A. [1 ]
Wieczorek, D. [1 ]
机构：
[1] Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany
来源：
MEDIZINISCHE GENETIK | 2011年 / 23卷 / 04期
关键词：
Overgrowth; Syndromes; Tumor risk; Prevention programs; SOTOS; BIRTH;
D O I：
10.1007/s11825-011-0307-7
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Syndromic conditions with overgrowth as the cardinal clinical sign are a relevant problem in human genetics and pediatrics. Overgrowth is defined as a length/height of more than two standard deviations above the mean, i.e. a body length above the 97th centile. Overgrowth syndromes relevant in the clinical daily routine of the geneticist or pediatrician are described here: Marfan, Beck-with-Wiedemann, Sotos, Weaver, Simpson-Golabi-Behmel and Proteus syndromes. The characteristic clinical signs, diagnostic criteria, molecular bases, modes of inheritance, prevention programs-where necessary-as well as differential diagnoses are presented here.
引用
收藏
页码：505 / 515
页数：11
相关论文
共 50 条
  • [21] An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant
    Ulker, Aylin Yuksel
    Alkaya, Dilek Uludag
    Caglayan, Ahmet Okay
    Usluer, Esra
    Aykut, Ayca
    Aslanger, Ayca
    Vural, Mehmet
    Tuysuz, Beyhan
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (06) : 1530 - 1545
  • [22] Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene
    Maguolo, Alice
    Antoniazzi, Franco
    Spano, Alice
    Fiorini, Elena
    Gaudino, Rossella
    Mauro, Margherita
    Cantalupo, Gaetano
    Biban, Paolo
    Maitz, Silvia
    Cavarzere, Paolo
    ITALIAN JOURNAL OF PEDIATRICS, 2018, 44
  • [23] Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene
    Alice Maguolo
    Franco Antoniazzi
    Alice Spano
    Elena Fiorini
    Rossella Gaudino
    Margherita Mauro
    Gaetano Cantalupo
    Paolo Biban
    Silvia Maitz
    Paolo Cavarzere
    Italian Journal of Pediatrics, 44
  • [24] Overgrowth in myth and art
    Boccuto, Luigi
    Neri, Giovanni
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2021, 187 (02) : 176 - 181
  • [25] PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes
    Cyrus, Sharri
    Burkardt, Deepika
    Weaver, David D.
    Gibson, William T.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019, 181 (04) : 519 - 531
  • [26] Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes
    Dsouza, Nikita R.
    Cottrell, Catherine E.
    Davies, Olivia M. T.
    Tollefson, Megha M.
    Frieden, Ilona J.
    Basel, Donald
    Urrutia, Raul
    Drolet, Beth A.
    Zimmermann, Michael T.
    LIFE-BASEL, 2024, 14 (03):
  • [27] Overgrowth of femoral fractures in childhood
    Jawish, R
    Kahwaji, A
    Dagher, G
    REVUE DE CHIRURGIE ORTHOPEDIQUE ET REPARATRICE DE L APPAREIL MOTEUR, 2003, 89 (05): : 404 - 406
  • [28] A distinctive overgrowth syndrome with polysyndactyly
    Barnicoat, A
    Salman, M
    Chitty, L
    Baraitser, M
    CLINICAL DYSMORPHOLOGY, 1996, 5 (04) : 339 - 346
  • [29] Dynamics and Overgrowth of Volga Reservoirs
    Papchenkov, V. G.
    Papchenkova, G. A.
    WATER RESOURCES, 2020, 47 (04) : 591 - 598
  • [30] Lateralized and Segmental Overgrowth in Children
    Mussa, Alessandro
    Carli, Diana
    Cardaropoli, Simona
    Ferrero, Giovanni Battista
    Resta, Nicoletta
    CANCERS, 2021, 13 (24)
12345