Prenatal Sonographic Diagnosis of Klippel-Trenaunay-Weber Syndrome Associated with Umbilical Cord Hemangioma

Abstract

Klippel-Trenaunay-Weber syndrome (KTW), also known as angio-osteohypertrophy syndrome, is a complex developmental disorder characterized by asymmetric hemi-hypertrophy of limbs and trunk due to bony and soft tissue overgrowth that may extend across the midline, varicose veins, and cutaneous hemangiomata. This rare syndrome has been previously described in the prenatal period by ultrasonography, and in literature, there are quite different presentation of cases. We describe a case suggested as a KTW syndrome by prenatal ultrasonography. The sonographic appearance of an unilateral leg hypertrophy associated with irregular echolucent cystic areas was consistent with KTW syndrome. A spheric, weak-echogenic mass without any active blood flow located in the umbilical cord revealed by color Doppler ultrasonography was an unexpected finding. The postpartum examination confirmed the prenatal diagnosis.

Current Perspectives of Prenatal Sonography of Umbilical Cord Morphology

“…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.…”

“…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. 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.…”

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

“…In our case, a hemangioma was located in the umbilical cord. Sahinoglu 14 has also reported a case of KTWS associated with umbilical cord hemangioma. Our case is the second reported case of KTWS with a complication of umbilical cord hemangioma.…”

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

“…A deep tissue cavernous hemangioma may gradually appear and aggravate in later childhood. The prenatal ultrasound features in utero have been described in many studies[ 8 , 12 - 14 ]. They include marked asymmetrical hypertrophy of limbs, thickening of the subcutaneous soft tissue, multiple cystic lesions, increasing blood flow signals, dilated veins or persistence of embryonic veins.…”