Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: Report of two adolescents and a child
Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: Report of two adolescents and a child
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DOI：
10.1002/ajmg.a.30030
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发表时间：
2004-07-15
影响因子：
2
通讯作者：
Yoshimoto, M
中科院分区：
文献类型：
--
作者：
Nishimura, G;Hasegawa, T;Yoshimoto, M
我们报告了一个以前未描述的综合征的特点是全身骨骼改变和过度生长在三个无关的个人：一个男孩谁在16岁时死亡，一个16岁的女孩，和一个15个月大的男孩。骨骼变化包括颅底骨过度生长、脊椎发育不良和管状骨欠塑。骨龄在儿童早期加速。生长过度与生长激素-胰岛素样生长因子轴无关，两个男孩在产前发病，而女孩在产后发病。在这两个青少年中，生长速度并没有随着年龄的增长而下降，并且高剂量的雌激素治疗未能诱导骨骺融合。他们的青春期身高达到了平均值的+4similar至+7SD。女孩青春期延迟与隐睾。和尿道下裂的小男孩提出了性腺功能减退是一种综合征的可能性。对大男孩的IGF 2、GPC 3和FGFR 3进行分子分析，未发现异常。(C)2004 Wiley-Liss，Inc.
We report on a previously undescribed syndrome characterized by generalized skeletal alterations and overgrowth in three unrelated individuals: a boy who died at age 16 years, a 16-year-old girl, and a 15-month-old boy. The skeletal changes included bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Bone age was accelerated in early childhood. Overgrowth, which was independent of GH-IGF axis, was of prenatal onset in the two boys, but postnatal in the girl. In the two adolescents, growth rate did not decline with age, and high-dose estrogen therapy failed to induce physeal fusion. Their adolescent height reached +4similar to+7 SD of the mean. Delayed puberty in the girl and cryptorchidism. and hypospadias in the younger boy raised the possibility that hypogonadism is a syndromic constituent. Molecular analysis of IGF2, GPC3, and FGFR3 in the older boy yielded no abnormalities. (C) 2004 Wiley-Liss, Inc.