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单发性双侧面横裂伴有家族遗传和染色体异常3例报告 总被引:3,自引:0,他引:3
报告3例单发性双侧面横裂伴有三代家族遗传史和相同的染色体异常核型,相同的对称性恒牙(胚)先天性缺如,并对面横裂的发病机制及病因学进行了讨论。这是一组极罕见的病例,在所涉猎的文献中,迄今尚未见相同报道,是否为一种新的综合征,目前尚不能定论,有待今后进一步探讨 相似文献
23.
A few hours after servicing illuminated lamps inside a whole body ultraviolet radiation B (UVB) phototherapy cabin, a technician developed erythema to the anterior neck with subsequent peeling, despite wearing a UV-opaque face shield. Measurements using polysulphone film badges attached to various sites on the head and neck of a mannikin were carried out to explore the spatial distribution of UVB exposure. It was found that the lower face and neck can receive sufficient exposure to result in erythema, the reason being that the fluorescent lamps will extend to about 1.5 m inferior to the head of an upright person and so result in irradiation from below. It is important, therefore, that if operators or service personnel need to be in an illuminated UVB cabin for several minutes or more, adequate protection should be provided to the chin and neck, in addition to a UV-opaque face shield. 相似文献
24.
Silvia Masnada Daniele Gibelli Claudia Dolci Valentina De Giorgis Annalisa Cappella Pierangelo Veggiotti Chiarella Sforza The Italian Aicardi Study Group 《American journal of medical genetics. Part A》2020,182(10):2325-2332
Aicardi syndrome (AIC) is a rare congenital neurodevelopmental disorder of unknown etiology, that affects almost exclusively females, originally characterized by corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. The current diagnostic criteria also include qualitative facial features (prominent premaxilla, upturned nasal tip, decreased nasal bridge angle, sparse lateral eyebrows, and microphthalmia) that still need quantification. A three‐dimensional (3D) photogrammetric assessment of 11 Italian females, age 7–32 years, who satisfied AIC criteria, was performed. Linear distances and angles were computed from soft‐tissue facial landmarks coordinates. The z‐score values were calculated using data of 850 healthy reference females matched for age and compared by Mann–Whitney test (p < .01). Patients showed a shorter philtrum and right side orbital height (mean z‐scores: ?1.7, ?0.9), shorter superior, middle, and inferior facial depths (mean z‐scores: ?1.3, ?2.2, ?2.3), and a smaller length of mandibular ramus (mean z‐score: ?2.1); conversely, they showed larger nasal and lower facial widths, and lower facial convexity (mean z‐scores: 1.7, 1.4, 2.4). The inclinations of the orbit versus the true horizontal were increased bilaterally (mean z‐scores: 1.8, 1.1). Some common facial abnormalities were quantified in AIC patients using a noninvasive instrument. They may help clinicians in performing a definite AIC diagnosis in atypical or doubt cases. 相似文献
25.
Masato Tsukahara Masakatsu Sase Hiroshi Tateishi Tsuyoshi Saito Hiroshi Kato Susumu Furukawa 《American journal of medical genetics. Part A》1995,55(2):217-220
We report on a female baby with Fryns syndrome who died soon after birth. The patient had short limbs, coarse face, hypoplastic lungs, diaphragmatic hernia, and acral hypoplasia. Literature review disclosed varying degrees of skeletal manifestations in Fryns syndrome; short limbs may be a component of Fryns syndrome. © 1995 Wiley-Liss, Inc. 相似文献
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为探讨小儿头面部烧伤后体积的变化,我们从1991年5月~1997年12月用陈壁教授提出热量计算小儿头面部体积的方法,对30例渡过休克期而生命体征平稳的6岁以下合并头面部重度烧伤的患儿在烧伤后48小时及5天~7天分别出量计算头面部体积,得出每1%头面部烧伤创面每kg体重烧伤后48小时内体积增加6.05±1.08cm3.明显高于目前习用输液公式伤后48小时每kg体重量1%烧伤面积2.7~3ml.为了准确计算此类病人休克期液体丢失量,建议分别计算头面部和其他部位创面伤后丢失量,从而指导临床治疗,提高救治水平. 相似文献
28.
颜面皮肤癌VEGF和NOS表达及相关性 总被引:1,自引:0,他引:1
[目的]研究血管内皮生长因子(VEGF)、诱导型一氧化氮合酶(iNOS)和内皮型一氧化氮合酶(eNOS)在颜而皮肤癌的表达及其相关性.[方法]应用免疫组化方法检测47例颜面皮肤癌标本VEGF、iNOS和eNOS的表达,并对其相关性进行统计分析.[结果]47例颜面皮肤癌组织中,表达iNOS、eNOS、VEGF的分别为63.83%、74.47%、68.09%;VEGF与iNOS的表达具有明显相关性(P<0.01),VEGF与eNOS的表达无明显相关性(P>0.05);VEGF的表达与颜面皮肤癌肿瘤分化程度呈正相关,与临床分期及病理分型无关.iNOS表达与颜面皮肤癌的分化程度及临床分期呈正相关,与病理分型无关.eNOS表达与颜面皮肤癌病理分型、临床分期和分化程度均无关.[结论]VEGF与iNOS的表达具有明显相关性,iNOS和VEGF在肿瘤生成过程中起重要作用. 相似文献
29.
Jill Boucher Vicky Lewis & Glyn Collis 《Journal of child psychology and psychiatry, and allied disciplines》1998,39(2):171-181
Relatively able children with autism were compared with age- and language-matched controls on assessments of (1) familiar voice-face identity matching, (2) familiar face recognition, and (3) familiar voice recognition. The faces and voices of individuals at the children's schools were used as stimuli. The experimental group were impaired relative to the controls on all three tasks. Face recognition and voice recognition correlated significantly with voice-face identity matching, but not with each other, suggesting that the recognition impairments jointly cause the matching impairment. Neither chronological age nor verbal mental age were consistently related to the recognition and matching impairments. 相似文献
30.
人面部蠕形螨感染致病及其防治 总被引:8,自引:0,他引:8
蠕形螨(demodex)寄生于人面部可引起人面部蠕形螨病(demodicidosis),对人的美容和生活造成影响。本文就人面部蠕形螨感染致病及其防治的研究予以综述,以求为临床诊断和治疗面部蠕形螨病提供依据。 相似文献