Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
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DOI：
10.1002/ajmg.a.30965
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发表时间：
2005-10-15
影响因子：
2
通讯作者：
Fukushima, Y
中科院分区：
文献类型：
--
作者：
Kosho, T;Takahashi, J;Fukushima, Y
两名没有血缘关系的女孩，年龄分别为11岁和14岁，患有。描述了Ehler-Danlos综合征(EDS)VIB型的临床表现、特征相、骨骼异常和其他特征。他们有马凡氏习性伴漏斗胸；脆弱、高度伸展、易擦伤的皮肤，伴有增宽、萎缩的疤痕；复发性血肿；全身关节松弛；肌张力减退；脊柱侧弯；以及轻度大运动发育迟缓。例1排除了赖氨酸羟基酶缺乏症。例2有父母血缘关系。他们在童年早期都有下垂的眼睑裂隙、下垂的下睑、短的鼻子、小的嘴和长的人中。持续存在的面部特征包括粗眉、端头过长、斜视、蓝巩膜、低垂和倾斜的耳朵、发育不良的小柱、高弓的上颚和薄薄的上唇。他们有指骨、掌骨和跖骨的管状狭窄；伴有高椎骨的脊柱生理曲度降低；关节痉挛包括马蹄内翻足和进行性距腿外翻。他们对高音的听力受损。他们有便秘和复发性膀胱炎，并有膀胱增大。鉴于这些发现，我们认为这两个女孩代表了临床上可识别的EDS VIB亚群。(C)2005年Wiley-Liss，Inc.
Two unrelated girls, aged 11 and 14 years, with. clinical manifestations of Ehlers-Danlos syndrome (EDS) type VIB, characteristic facies, skeletal abnormalities, and other features are described. They had Marfanoid habitus with pectus excavatum.; fragile, hyperextensible, and readily bruisable skin with widened, atrophic scars; recurrent hematomas; generalized joint laxity; hypotonia; scoliosis; and mild delay of gross motor development. Lysyl hydroxylase deficiency was ruled out in Patient 1. Parental consanguinity was present in Patient 2. They both had, in early childhood, down-slanting palpebral fissures, drooping lower eyelids, short nose, small mouth, and long philtrum. Facial features that persisted included thick eyebrows, hypertelorism, strabismus, blue sclerae, low-set, and slanted ears, hypoplastic columella, high-arched palate, and thin upper lip. They had tubular stenosis of the phalanges, metacarpals, and metatarsals; decreased physiological curvatures of the spinal column with tall vertebrae; and joint contractures including talipes equinovarus and progressive talipes valgus. Their hearing of high-pitched sounds was impaired. They had constipation and recurrent cystitis with an enlarged bladder. In view of these findings, we propose that these two girls represent a clinically recognizable subgroup of EDS type VIB. (c) 2005 Wiley-Liss, Inc.