Prenatal ultrasonographic findings in Klippel-Trenaunay syndrome: A case report

Pang, Houqing; Gao, Qianqian

doi:10.12998/wjcc.v9.i35.10994

Cited by 3 publications

(1 citation statement)

References 14 publications

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“…Despite the difficulty of accurate diagnosis, the frequency of detection of fatal anomalies of the skeleton using ultrasound is 94-96%. Even if an anomaly of the musculoskeletal system is diagnosed, not all prenatal diagnostics are complete, in some cases additional examination is required after childbirth [13,22]. Although ultrasonography plays almost the most important role in detecting skeletal abnormalities [17,25], some authors believe that genetic tests at the molecular level should be used to confirm chromosomal mutations and improve the accuracy of prenatal diagnosis [16].…”

Section: Discussionmentioning

confidence: 99%

Fetal ultrasound anatomy and morphometric parameters of the tibia

Komar,

Khmara,

Protsak

et al. 2024

Rep. of Morph.

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Ultrasound screening is one of the most informative methods of visualizing fetal development during pregnancy. During standard ultrasound examinations, the length of the femur of the fetus is measured. However, if any skeletal dysplasia or intrauterine growth retardation is suspected, additional measurement of other long tubular bones should be performed. The aim of the work was to investigate the morphometric parameters of the lengths of the right and left tibia bones and to establish correlations between them and the lengths of the corresponding fibula, lower limb and crown rump length of the fetus during the fetal period of human ontogenesis. Intravital ultrasound examination of the leg bones of 38 human fetuses was performed at the medical center "YUZKO MEDICAL CENTER" in accordance with the cooperation agreement. Built-in capabilities of MS Excel were used for statistical calculations. The established data on the fetal morphometry of tibial lengths indicate relatively uniform growth of the right and left tibias during the fetal period of human ontogenesis: the length of the right tibia increases from 24.77±2.25 mm to 65.32±2.20 mm, and the length of the left tibia increases from 25.19±1.63 mm to 65.78±1.81 mm. The analysis of correlations between the length of the right and left tibia bones, the length of the fibula bones, the length of the lower limbs and the crown rump length in human fetuses aged from 4 to 10 months of intrauterine development allowed to reveal reliable strong and medium strength reliable and unreliable, mostly direct, connections in all age groups. The obtained morphometric parameters of tibia bones in fetuses of different gestational periods are important additional dimensions of fetobiometry, which can be used if a detailed assessment of the state of fetal development is necessary and in case of suspicion of congenital anomalies.

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Section: Discussionmentioning

confidence: 99%

Fetal ultrasound anatomy and morphometric parameters of the tibia

Komar,

Khmara,

Protsak

et al. 2024

Rep. of Morph.

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Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Orlandi,

Sarno,

Angelino

et al. 2024

J of Clinical Ultrasound

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Klippel‐Trénaunay‐Weber syndrome (KTW) is a rare congenital disease, representing a challenge in prenatal diagnosis due to overlapping characteristics with other syndromes and no specific genetic markers known to date. We have collected all the cases present in the literature on the prenatal diagnosis of KTW, emphasizing common ultrasound findings that can guide the clinician and genetics to the prenatal counseling. Thus, we collected all the information about the postnatal prognosis and the necessity for treatment. Our review of 44 cases highlights the typical common features: hemihypertrophy, predominantly affecting the right leg, with cystic lesions extending to the trunk or upper limbs and rare internal organ involvement. Prenatal complications, including hydrops and polyhydramnios, emphasize the need for a careful ultrasound follow‐up. Despite no identified genetic mutation, genetic counseling and invasive testing are recommended. Mortality rate due to a severe complication known as Kasabach‐Merritt syndrome, underlines the importance of early diagnosis and accurate management strategies. Prenatal diagnosis of KTW, guided by ultrasound findings and genetic counseling, could help with informed decision‐making and optimal care planning.

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Vascular Malformations

Bhari,

Agarwal,

Asritha

et al. 2024

Indian Dermatology Online Journal

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Vascular malformations are intricate anomalies of the circulatory system, presenting a diverse array of clinical manifestations, and posing significant challenges in diagnosis and treatment. The pathogenesis of vascular malformations is explored through the lens of genetic and molecular mechanisms, shedding light on the pivotal role of somatic mutations and dysregulated signaling pathways. Clinical presentations of vascular malformations are widely variable, ranging from cosmetic concerns to life-threatening complications. The utility of imaging techniques, such as magnetic resonance imaging (MRI), computed tomography (CT), and angiography, are discussed in detail, emphasizing their role in precise delineation and characterization. Therapeutic strategies for vascular malformations are multifaceted, considering factors such as lesion size, location, potential complications, and patient-specific factors. Traditional interventions, including surgical excision and embolization, are appraised alongside emerging approaches like targeted molecular therapies and minimally invasive procedures. The manuscript underscores the need for an individualized treatment approach, optimizing outcomes while minimizing risks and complications. In summation, this manuscript offers a comprehensive analysis of vascular malformations, encompassing their underlying pathogenesis, clinical nuances, diagnostic methods, and therapeutic considerations. By synthesizing current knowledge and highlighting gaps in understanding, this review serves as a valuable resource for clinicians, researchers, and medical practitioners, fostering an enhanced comprehension of vascular malformations and paving the way for improved patient care and innovative research endeavors.

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Prenatal ultrasonographic findings in Klippel-Trenaunay syndrome: A case report

Cited by 3 publications

References 14 publications

Fetal ultrasound anatomy and morphometric parameters of the tibia

Fetal ultrasound anatomy and morphometric parameters of the tibia

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Vascular Malformations

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