congenital abnormality

先天性异常
  • 文章类型: Case Reports
    目前的病例报告是一名男婴,在妊娠38周时由下段剖宫产非近亲父母第二胎出生,血管充血,左腿血管变色和扩张的独特模式。股动脉和静脉的多普勒显示正常的三相流和波形,没有任何明显的管腔狭窄的证据。下肢长度也有1.5厘米的差异。使用荧光酶免疫测定筛查进行的基因检测显示出阴性筛查报告。使用畸变产物耳声发射进行的耳学筛查显示,两只耳朵的外毛细胞功能正常。该病例被诊断为先天性皮肤毛细血管扩张症(CMTC),排除遗传疾病后。它与任何其他重大健康问题无关。CMTC的诊断是基于出生时的皮肤外观,两天后不久变得更加明显。在这种情况下,没有特定的治疗是必要的,病情随时间改善.
    The current case report presents a male baby, second born to nonconsanguineous parents at 38 weeks of gestation by lower segment cesarean section, with engorged blood vessels and distinctive patterns of discoloration and dilation of blood vessels on the left leg. A Doppler of the femoral artery and vein showed normal triphasic flow and waveforms without any evidence of significant luminal stenosis. There was also a lower limb length discrepancy of 1.5 cm. Genetic testing using fluorometric enzyme immunoassay screening revealed a negative screening report. Otologic screening using distortion product otoacoustic emissions revealed normal functioning of outer hair cells in both ears. The case was diagnosed as cutis marmorata telangiectatica congenita (CMTC), after ruling out genetic diseases. It was not associated with any other significant health problems. The diagnosis of CMTC was based on the appearance of the skin at birth, which became more noticeable shortly after two days. In this case, no specific treatment was warranted and the condition improved with time.
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  • 文章类型: Case Reports
    一个14个月大的女孩被她的父母带到我们这里,抱怨她的右下肢自出生以来逐渐缩短。出生在非近亲的父母,来自贫穷的社会经济背景,她的出生和产前史都很顺利。体格检查显示没有面部畸形;然而,她的右大腿又短又大,臀部有限制,膝盖,和脚踝运动。儿科评价显示生长发育正常。X线检查证实右下肢股骨近端局灶性缺损(PFFD)。经过父母对这种情况的广泛咨询,潜在的干预措施,和结果,由于担心手术费用,父母选择了假肢治疗,风险,和美容结果。为肢体准备了定制的延伸假体,并适合。在一年的随访中,孩子表现出正常的步态模式,髋部稳定,膝盖,和脚踝运动,父母对假肢管理表示满意,暂时比手术更喜欢它。
    A 14-month-old female child was brought to us by her parents with the complaint of progressive shortening of her right lower limb since birth. Born to non-consanguineous parents from a poor socioeconomic background, her birth and antenatal history were uneventful. Physical examination revealed no facial dysmorphism; however, her right thigh was short and bulky, and there were restrictions in hip, knee, and ankle movements. The pediatric evaluation showed normal growth and development. X-rays confirmed proximal femoral focal deficiency (PFFD) of the right lower limb. After extensive parental counseling regarding the condition, potential interventions, and outcomes, the parents opted for prosthetic management due to concerns about surgical costs, risks, and cosmetic outcomes. A custom-made extension prosthesis was prepared for the limb and was fit. At a follow-up of one year, the child exhibited a normal gait pattern with stable hip, knee, and ankle motion, and the parents expressed satisfaction with the prosthetic management, preferring it over surgical intervention for the time being.
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  • 文章类型: Case Reports
    本报告旨在通过检查临床病例并对相关文献进行全面审查,研究47,XXX与胎儿水肿之间的关系。一个34岁的日本女人,妊娠2,第1段,在妊娠27周时被诊断为胎儿水肿。产前检测显示为47,XXX核型。干预措施包括胸腔穿刺术和胸腔羊膜分流术。在34周时进行了剖宫产,女性新生儿最初出现了呼吸挑战。在新生儿重症监护病房69天后,婴儿情况稳定出院,并确认了47,XXX核型。此病例可能会增加证据,表明47,XXX与胎儿水肿之间存在关联。染色体异常是胎儿水肿的原因,但其与47,XXX的关联尚不清楚。向夫妻提供有关这种情况的全面信息至关重要,考虑将胎儿积水纳入相关疾病列表可能是明智的。
    This report aims to investigate the association between 47,XXX and fetal hydrops by examining a clinical case and performing a comprehensive review of the relevant literature. A 34-year-old Japanese woman, gravida 2, para 1, was diagnosed with fetal hydrops at 27 weeks\' gestation. Prenatal testing revealed a 47,XXX karyotype. Interventions included thoracocentesis and a thoracoamniotic shunt. A cesarean delivery was performed at 34 weeks and the female neonate initially had respiratory challenges. After 69 days in the neonatal intensive care unit, the infant was discharged in stable condition, and the 47,XXX karyotype was confirmed. This case may add evidence suggesting an association between 47,XXX and fetal hydrops. Chromosomal abnormalities are causes of fetal hydrops, but its association with 47,XXX remains unclear. Providing comprehensive information on this condition to couples is crucial, and considering the inclusion of fetal hydrops in the list of associated conditions might be advisable.
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  • 文章类型: Journal Article
    背景:多指是一种先天性异常,其特征是在一个或多个四肢上存在额外的手指。在哥伦比亚,2021年,多指畸形占肌肉骨骼先天性畸形的17%,患病率为每10,000例活产6.03。这项研究的目的是确定多指的患病率,并确定相关的危险因素在波哥大和卡利,哥伦比亚,从2002年到2020年。
    方法:采用回顾性病例对照研究设计,分析先天缺陷和孤儿疾病预防和随访计划监测系统提供的出生缺陷报告数据。病例包括多指的活产或死产,而对照组由没有先天性异常的婴儿组成,在出生日期和医院方面相匹配。计算多指患病率,并通过逻辑回归模型获得的比值比评估危险因素,考虑95%的置信区间。
    结果:在纳入研究的558,255名新生儿中,发现848例多指畸形,导致每10,000例活产中15.19例的患病率。与多指畸形相关的危险因素包括男性新生儿性别,孕前糖尿病,一级亲属有畸形家族史。
    结论:这些发现强调了监测系统的重要性,旨在表征先天性异常人群,为分析风险因素提供更好的选择,帮助改善预防,诊断,通知,以及患者的最佳治疗。
    BACKGROUND: Polydactyly is a congenital abnormality characterized by the presence of additional fingers on one or more extremities. In Colombia, polydactyly accounted for 17% of musculoskeletal congenital abnormalities in 2021, with a prevalence of 6.03 per 10,000 live births. The purpose of this study was to determine the prevalence of polydactyly and identify associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020.
    METHODS: A retrospective case-control study design was employed, analyzing data from birth defect reports provided by the Program for the Prevention and Follow-up of Congenital Defects and Orphan Diseases surveillance system. Cases included live births or stillbirths with polydactyly, while controls consisted of infants without congenital abnormality, matched in terms of birth date and hospital. Prevalence of polydactyly was calculated and risk factors were assessed through odds ratios obtained by logistic regression models, considering a 95% confidence interval.
    RESULTS: Among the 558,255 births included in the study, 848 cases of polydactyly were identified, resulting in a prevalence rate of 15.19 per 10,000 live births. Risk factors associated with polydactyly included male newborn sex, pregestational diabetes, and a family history of malformation among first-degree relatives.
    CONCLUSIONS: These findings highlight the importance a surveillance system aimed to characterize populations with congenital abnormalities, providing a better option for analyzing risk factors, help improving prevention, diagnosis, notification, and optimal treatment in patients.
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  • 文章类型: Case Reports
    口腔溃疡,所有小牛养殖场的经济问题,通常是沉默的,直到穿孔发生,在这个时候,管理是复杂的,而且往往是没有回报的。该案例研究描述了3天大的婆罗门小母牛的穿孔性溃疡,继发于先天性幽门和十二指肠近端狭窄,并导致明显的鼻孔扩张,泄漏,以及最终的腹膜炎和败血症.
    Abomasal ulcers, an economic concern for all calf-raising farms, are usually silent until perforation occurs, at which time management is complicated and often unrewarding. This case study describes perforating ulcer in a 3-day-old Brahman heifer, occurring secondary to a congenital narrowing of the pylorus and proximal duodenum and leading to marked abomasal distention, leakage, and eventual peritonitis and sepsis.
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  • 文章类型: Case Reports
    全位倒位是一种罕见的先天性异常,其特征是腹部和胸部器官的镜像移位。导致先天性脊柱侧凸的椎体异常根据形成失败进行分类。分割,或者两者兼而有之。手术治疗的标志是在大曲率发展之前的早期干预。先天性畸形的手术治疗要求使用神经系统监测,以最大程度地减少围手术期神经功能缺损的风险。
    方法:我们介绍了一名21岁的患者,该患者因矫正脊柱侧凸畸形而入院。长时间站立和长时间携带重物时背痛的投诉。她的全身检查显示右侧的心尖跳动,左侧肝脏迟钝,和肋骨驼峰畸形。
    先天性脊柱侧凸是脊柱最常见的先天性畸形。先天性弯曲是由于椎骨的异常发育(形成和/或分割失败)。先天性脊柱侧凸被认为与脊柱胚胎发育和相关畸形期间对胎儿的损害有关。在我们的案例中,X光显示心尖,脾,脾胃,主动脉出现在右侧,左侧可见较大的肝叶和下腔静脉。因此,影像表现支持全位倒位的诊断。
    结论:截骨矫正手术治疗脊柱侧凸合并全位倒位是一种安全有效的方法。
    UNASSIGNED: Situs inversus totalis is a rare congenital abnormality characterized by a mirror-image transposition of both the abdominal and the thoracic organs. Vertebral anomalies causing congenital scoliosis are classified on the basis of failures of formation, segmentation, or both. The hallmark of surgical treatment is early intervention before the development of large curvatures. The surgical treatment of a congenital deformity mandates the use of neurological monitoring to minimize the risk of perioperative neurological deficit.
    METHODS: We present a 21-year-old patient who was admitted for her scoliosis deformity correction. Complaints of back pain when standing for a long time and carrying heavy loads for too long. Her systemic examination revealed the apex cardiac beat on the right side, liver dullness on the left side, and rib hump deformity.
    UNASSIGNED: Congenital scoliosis is the most frequent congenital deformity of the spine. Congenital curvatures are due to anomalous development of the vertebrae (failure of formation and/or segmentation). Congenital scoliosis is believed to be related to an insult to the fetus during spine embryological development and associated malformations. In our case, the X-ray showed that the cardiac apex, spleen, stomach, and aorta were present on the right side, and the larger liver lobe and inferior vena cava were noted on the left side. Thus, the image manifestations supported the diagnosis of situs inversus totalis.
    CONCLUSIONS: Corrective surgery with osteotomy could be a safe and effective for the treatment of scoliosis associated with situs inversus totalis.
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  • 文章类型: Case Reports
    一名59岁的男性偶然被诊断为左心房二尖瓣腱索,累及A1和A2二尖瓣小叶的交界处,并导致中度二尖瓣反流。对这种极为罕见的先天性畸形的认识阻止了过度诊断和过度治疗。
    A 59-year-old male was incidentally diagnosed with a left atrial mitral valve chordae involving the junction of the A1 and A2 mitral valve leaflets and resulting in moderate mitral regurgitation. The recognition of this extremely rare congenital malformation prevented over diagnosis and overtreatment.
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  • 文章类型: Case Reports
    Symbrachydactyly是一种复杂而罕见的先天性手畸形,其特征是手指缺失或不发达以及基本的指骨。本病例报告集中于1例3A型女性,突出独特的临床表现,诊断评估,和初始管理方法。这种情况的罕见性强调了分享病例以增进理解和治疗策略的必要性。存在各种分类系统,有助于准确地对对称齿形进行分类的挑战。手术干预在恢复手功能和外观中起着至关重要的作用。根据个人评估和目标定制治疗选择。早期手术干预通常是必要的,以改善结果。和非血管化脚趾指骨转移已显示出有希望的结果。需要进一步的研究来发现潜在的原因和发病机制的交桥。使更有针对性和有效的治疗方法。此病例报告有助于对这种罕见的先天性异常的现有知识和管理,强调分享和研究此类病例对改善患者护理的重要性。
    Symbrachydactyly is a complex and rare congenital hand deformity characterized by missing or underdeveloped fingers and rudimentary digit nubbins. This case report focuses on a newborn female with type 3A symbrachydactyly, highlighting the unique clinical presentation, diagnostic assessment, and initial management approach. The rarity of this condition underscores the need for sharing cases to enhance understanding and treatment strategies. Various classification systems exist, contributing to the challenge of accurately categorizing symbrachydactyly. Surgical interventions play a crucial role in restoring hand function and appearance, with treatment choices tailored to individual evaluation and goals. Early surgical intervention is often necessary to improve outcomes, and nonvascularized toe phalangeal transfers have shown promising results. Further research is required to uncover the underlying cause and pathogenesis of symbrachydactyly, enabling more targeted and effective treatment approaches. This case report contributes to the existing knowledge and management of this uncommon congenital anomaly, emphasizing the importance of sharing and studying such cases for improved patient care.
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  • 文章类型: Case Reports
    单侧肺发育不全是一种罕见的先天性异常,通常在出生后表现为呼吸窘迫。预后因素包括受影响的肺侧面以及其他先天性异常的存在或不存在。产前成像可以做出诊断,可以帮助医疗团队准备照顾新生儿,以及对家庭的期望。在这个系列中,我们描述了三例单侧肺发育不全,两个右肺发育不全的婴儿,一个是左边的。我们描述他们的介绍,提供一个简短的临床课程,讨论结果。
    Unilateral lung agenesis is a rare congenital abnormality that typically presents with respiratory distress after birth. Prognostic factors include the side of the lung affected along with the presence or absence of other congenital abnormalities. Prenatal imaging can make the diagnosis that can assist the healthcare team in preparing to care for the neonate, as well as set expectations for the family. In this case series, we describe three cases of unilateral lung agenesis, two infants with right lung agenesis, and one with the left. We describe their presentation, provide a brief clinical course, and discuss outcomes.
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  • 文章类型: Case Reports
    肺隔离症是一种罕见的先天性支气管肺畸形,估计发生率不到6%。它被描述为非功能性肺组织的异常形成,其血液供应来自全身循环而不是支气管树。大多数是单方面的,而双边比例很小。延迟诊断会导致反复发作的肺炎,未能茁壮成长,定期医院就诊,发病甚至死亡。因此,提高对这种情况的认识很重要。在这里,我们介绍了一例42岁的双侧肺隔离症(BPS)患者的三重排除CT血管造影(TRO-CTA).
    Pulmonary sequestration is a rare congenital bronchopulmonary malformation with an estimated incidence of less than 6%. It is described as the abnormal formation of nonfunctional lung tissue that receives its blood supply from systemic circulation rather than the bronchial tree. Most are unilateral, while a miniscule proportion is bilateral. Delayed diagnosis can result in recurrent pneumonia, failure to thrive, regular hospital visits, morbidity and even fatality. Thus, it is important to raise awareness of this condition. Herein, we present a case of a 42-year-old patient with bilateral pulmonary sequestration (BPS) on a triple rule out CT angiography (TRO-CTA).
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