Prenatal ultrasound diagnosis of <scp>Klippel‐Trenaunay‐Weber</scp> syndrome associated with umbilical cord hemangioma

Yu, Dongmei; Sun, Lingyu; Chen, Taotao

doi:10.1002/jcu.22896

Cited by 7 publications

(6 citation statements)

References 17 publications

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“…Interestingly, two reports of prenatal ultrasonographic diagnosis of umbilical cord hemangioma in association with Klippel-Trenaunay-Weber syndrome have been reported. 258,259 Sahinoglu et al reported a spheric weakly echogenic mass within the umbilical cord, later confirmed at postpartum examination as an umbilical cord hemangioma. 258 Recently, in 2020, Yu et al reported prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome (mainly manifesting hypertrophy of the left thigh) associated with an umbilical cord hemangioma.…”

Section: Umbilical Cord Hemangioma In Association With Klippel-trenaunay-weber Syndromementioning

confidence: 98%

“…Interestingly, two reports of prenatal ultrasonographic diagnosis of umbilical cord hemangioma in association with Klippel-Trenaunay-Weber syndrome have been reported. 258 , 259 …”

Section: Umbilical Cord Tumorsmentioning

confidence: 99%

“… 258 Recently, in 2020, Yu et al reported prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome (mainly manifesting hypertrophy of the left thigh) associated with an umbilical cord hemangioma. 259 These cases infer that upon consideration of Klippel-Trenaunay-Weber syndrome, the umbilical cord should be scanned in detail in search of possible umbilical cord hemangiomas.…”

Section: Umbilical Cord Tumorsmentioning

confidence: 99%

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Current Perspectives of Prenatal Sonography of Umbilical Cord Morphology

Sherer¹,

Al-Haddad²,

Cheng³

et al. 2021

IJWH

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The umbilical cord constitutes a continuation of the fetal cardiovascular system anatomically bridging between the placenta and the fetus. This structure, critical in human development, enables mobility of the developing fetus within the gestational sac in contrast to the placenta, which is anchored to the uterine wall. The umbilical cord is protected by unique, robust anatomical features, which include: length of the umbilical cord, Wharton's jelly, two umbilical arteries, coiling, and suspension in amniotic fluid. These features all contribute to protect and buffer this essential structure from potential detrimental twisting, shearing, torsion, and compression forces throughout gestation, and specifically during labor and delivery. The arterial components of the umbilical cord are further protected by the presence of Hyrtl's anastomosis between the two respective umbilical arteries. Abnormalities of the umbilical cord are uncommon yet include excessively long or short cords, hyper or hypocoiling, cysts, single umbilical artery, supernumerary vessels, rarely an absent umbilical cord, stricture, furcate and velamentous insertions (including vasa previa), umbilical vein and arterial thrombosis, umbilical artery aneurysm, hematomas, and tumors (including hemangioma angiomyxoma and teratoma). This commentary will address current perspectives of prenatal sonography of the umbilical cord, including structural anomalies and the potential impact of future imaging technologies.

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Section: Umbilical Cord Hemangioma In Association With Klippel-trenaunay-weber Syndromementioning

confidence: 98%

“…Interestingly, two reports of prenatal ultrasonographic diagnosis of umbilical cord hemangioma in association with Klippel-Trenaunay-Weber syndrome have been reported. 258 , 259 …”

Section: Umbilical Cord Tumorsmentioning

confidence: 99%

Section: Umbilical Cord Tumorsmentioning

confidence: 99%

See 1 more Smart Citation

Current Perspectives of Prenatal Sonography of Umbilical Cord Morphology

Sherer¹,

Al-Haddad²,

Cheng³

et al. 2021

IJWH

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“…Whelan et al [ 4 ] reported a case of KTS associated with a single gene defect at 5q or 11p, thus, demonstrating that this genetic defect may result in increased angiogenesis leading to KTS[ 5 ]. In addition, a case with a terminal 2q37.3 deletion[ 6 ] and a case of loss of heterozygosity for 1q21.2 q44[ 7 ] were also reported.…”

Section: Discussionmentioning

confidence: 99%

“…Both upper and lower limbs might be involved in 10% of patients. According to published reports, hemangioma lesions can also involve other organs and body parts, such as the liver, lung, spinal cord, cranial area, skull, intestinal tract, urinary tract, testis, adrenal glands, and peritoneal and retroperitoneal cavity[ 7 , 9 - 11 ].…”

Section: Discussionmentioning

confidence: 99%

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

Pang¹,

Gao²

2021

WJCC

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BACKGROUND Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder. A detailed prenatal ultrasound examination plays an important role in the diagnosis of KTS and the subsequent counseling and follow-up of the patient. CASE SUMMARY A 25-year-old woman attended our department for a regular examination. The whole of the right lower extremity and right buttock were observed to be markedly thicker compared to the left one at 18 wk of gestation. However, the lengths of the right femur, tibia and fibula were in the normal range. No marked edema and fluid/cystic spaces were detected in the lower limbs. There were no other organ abnormalities. The vasculature in the right limb was visibly dilated, with much higher intensive blood flow signals. No congenital embryonic veins were visible in both limbs. The right lower limb exhibited much more hypertrophy compared to the left limb two weeks later. Amniocentesis and genetic tests showed normal results with 46 XX. Despite the normal karyotype, the family opted to terminate the pregnancy. The post-mortem examination confirmed asymmetric hypertrophy of the right limb in the fetus and revealed a large area of marked dark-purple superficial capillary malformations occupying the skin of the right lower extremity. The enlargement of veins and soft tissue hypertrophy were also seen on postnatal X-ray and Magnetic Resonance Imaging. Autopsy revealed severe congestion in the right lower limb. A final diagnosis of KTS was made. CONCLUSION KTS may be diagnosed prenatally based on the typical features observed during ultrasound examination.

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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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Prenatal ultrasound diagnosis of Klippel‐Trenaunay‐Weber syndrome associated with umbilical cord hemangioma

Cited by 7 publications

References 17 publications

Current Perspectives of Prenatal Sonography of Umbilical Cord Morphology

Current Perspectives of Prenatal Sonography of Umbilical Cord Morphology

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

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

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