Head circumference of children with Williams-Beuren syndrome.
Head circumference of children with Williams-Beuren syndrome.
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患有威廉姆斯-博伊伦综合征的儿童的头围。
DOI：
10.1002/ajmg.1320520307
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
A. Wessel
中科院分区：
文献类型：
--
作者：
R. Pankau;C. Partsch;A. Neblung;A. Gosch;A. Wessel
头围被认为是大脑生长和发育的重要参数。Williams-Beuren综合征（WBS）头围的综合征特异性标准迄今为止还没有，尽管精神发育迟滞是该综合征的主要表现。因此，我们调查了63名女孩（251次测量）和88名男孩（298次测量）出生至成年期的WBS头部生长。在两种性别中，大多数测量都是从出生后的前4年开始的（女孩n = 162，男孩n = 189）。足月女孩和男孩出生时的平均（+/- SD）头围分别为33.39 +/- 1.38 cm和34.02 +/- 1.44 cm。虽然WBS女孩和男孩的头部生长速度较慢，但头围的模式与正常人群相似。3个月后，女孩的头围开始低于正常平均值（0.5-2厘米）。在男孩中，平均头围在1月龄时已经低于正常平均值（2 cm）。从6个月到4年，赤字增加到3厘米。成年OFC为52.85 +/- 1.75 cm（n = 16），而WBS女性为55.70 +/- 1.83 cm（n = 46; P < 0.00001），WBS男性为55.51 +/- 1.68 cm（n = 30），而男性为57.87 +/- 1.29 cm（n = 31; P < 0.00001）。在发育过程中，小头畸形仅见于约三分之一的WBS患者。
Head circumference is considered an important parameter of brain growth and development. Syndrome-specific standards for head circumference in Williams-Beuren syndrome (WBS) are not available to date, although mental retardation is a leading manifestation in the syndrome. Therefore, we investigated head growth in 63 girls (251 measurements) and 88 boys (298 measurements) with WBS between birth and adulthood. Most measurements in both sexes were from the first 4 years of life (n = 162 in girls and n = 189 in boys). Mean (+/- SD) head circumference at birth was 33.39 +/- 1.38 cm and 34.02 +/- 1.44 cm for term girls and boys, respectively. Although head growth in WBS girls and boys was at a slower velocity, the pattern of head circumference was similar to that in the normal population. After the age of 3 months, head circumference started to fall below the normal mean in girls (0.5-2 cm). In boys, mean head circumference was below the normal mean already at 1 month of age (2 cm). The deficit increased to 3 cm from 6 months to 4 years. Adult OFC was 52.85 +/- 1.75 cm (n = 16) compared to 55.70 +/- 1.83 cm (n = 46; P < 0.00001) in WBS women and 55.51 +/- 1.68 cm (n = 30) compared to 57.87 +/- 1.29 cm (n = 31; P < 0.00001) in WBS men. During development, microcephaly is only seen in about one third of WBS patients.
威廉姆斯综合征的神经心理学、神经学和神经解剖学概况。
DOI：
10.1002/ajmg.1320370621
发表时间：
1990
期刊：
American journal of medical genetics. Supplement
影响因子：
--
作者：
Bellugi,U;Bihrle,A;Jernigan,T;Trauner,D;Doherty,S
通讯作者：
Doherty,S