Growth charts for 22q11 deletion syndrome

被引:21
|
作者
Tarquinio, Daniel C. [2 ]
Jones, Marilyn C. [1 ,3 ]
Jones, Kenneth Lyons [3 ]
Bird, Lynne M. [1 ,3 ]
机构
[1] Rady Childrens Hosp, Div Dysmorphol Genet, San Diego, CA USA
[2] Miami Childrens Hosp, Dept Pediat Neurol, Miami, FL USA
[3] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA
关键词
DiGeorge syndrome; velo-cardio-facial syndrome; 22q11; 2 deletion syndrome; growth; stature; DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME; CARDIO-FACIAL SYNDROME; DIGEORGE/VELOCARDIOFACIAL-SYNDROME; MICRODELETION SYNDROME; PENALIZED LIKELIHOOD; CLINICAL-FEATURES; CHILDREN; DISORDERS; SPECTRUM; PROFILE;
D O I
10.1002/ajmg.a.35485
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The purpose of this work was to create growth curves specific to the 22q11.2 deletion syndrome. Growth parameters on 188 patients (86 females, 102 males) followed by a group of three dysmorphologists were collected by retrospective chart review. Growth charts for body mass, length/height, and head circumference were generated using a semi-parametric model with goodness-of-fit tests. The resulting charts show that between 25 and 50% of children with 22q11.2 deletion syndrome fall below the 2nd centile for the normal population for all growth parameters. Establishing norms of growth for 22q11.2 deletion syndrome allows the clinician to identify and investigate those children who deviate substantially from the growth profile of this condition. (c) 2012 Wiley Periodicals, Inc.
引用
收藏
页码:2672 / 2681
页数:10
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