Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)
Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)
复制标题
DOI：
10.1097/00125817-200101000-00007
复制
发表时间：
2001-01-01
影响因子：
8.8
通讯作者：
Dallapiccola, B
中科院分区：
文献类型：
--
作者：
Digilio, MC;Marino, B;Dallapiccola, B
目的：对染色体22q11.2（de 122 q11）微缺失患者进行了研究，以评估生长参数，并将生长模式与该综合征的主要临床特征相关联。研究方法：1995年1月至2000年3月期间，收集了73名de 122 q11患者的生长参数（体重、身高、头围和骨龄）。将患者分为5个亚组：第I组（37例患者）包括年龄为0.3 - 4岁的患者，第II组（20例患者）包括年龄为5 - 10岁的患者，第III组（16例患者）包括年龄为11 - 16.3岁的患者。一些临床特征的存在或不存在与生长模式相关。结果如下：重量：第一组，37人中有5人（13.5%）患者低于第3百分位数，37例中有29例Ⅱ组20例中13例（65%）体重在10 ~ 50分位数之间;在第III组中，16名患者中有5名（31.2%）的体重相当于第97百分位数，16名青少年中有2名（12.5%）的体重测量值甚至高于第97百分位数。身高：73例患者中有7例（9.6%）检测到身材矮小;身材矮小的患者均为
Purpose: Patients with microdeletion of chromosome 22q11.2 (de122q11) were studied, in order to evaluate auxological parameters and to correlate growth patterns with the presence of main clinical characteristics of the syndrome. Methods: Between January 1995 and March 2000, auxological parameters (weight, height, head circumference, and bone age) of 73 patients with de122q11 were collected. Five subgroups of patients were distinguished: Group I (37 patients) included patients aged between 0.3 and 4 years, Group II (20 patients) included patients aged between 5 and 10 years, Group III (16 patients) included patients aged between 11 and 16.3 years. The presence or absence of some clinical features was correlated to growth patterns. Results: Weight: in Group I, 5 of 37 (13.5%) patients were below the 3rd percentile, 29 of 37 (78.3%) were below the mean percentile, none was overweight; in Group II, 13 of 20 (65%) patients were between the 10th and the 50th percentiles; in Group III, weight corresponded to the 97th percentile in 5 of 16 (31.2%) patients, and in 2/16 (12.5%) adolescents, the weight measurements were even above the 97th percentile. Height: short stature was detected in 7 of 73 (9.6%) of the total patients; the patients with short stature were all