Biomaterial Database

Prenatal ultrasound diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma. 2021

Dongmei Yu, and Lingyu Sun, and Taotao Chen

Department of Special Examinations, Qingdao Women and Chlidren's Hospital, Qingdao, China.

We describe a case of prenatal diagnosed Klippel-Trenaunay-Weber syndrome, which mainly manifested as hypertrophy of the left thigh, and was associated with umbilical cord hemangioma and loss of heterozygosity (LOH) for 1q21.2 q44. This case report describes the second reported case associated with umbilical cord hemangioma and the first reported case with LOH for 1q21.2 q44.

UI	MeSH Term	Description	Entries
D007715	Klippel-Trenaunay-Weber Syndrome	A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator.	Klippel-Trenaunay Disease,Angio-Osteohypertrophy Syndrome,Angioosteohypertrophy Syndrome,Congenital Dysplastic Angiopathy,KTW Syndrome,Klippel Trenaunay Syndrome,Klippel-Trenaunay Syndrome,Klippel-Trénaunay-Weber Syndrome,Angio Osteohypertrophy Syndrome,Angio-Osteohypertrophy Syndromes,Angioosteohypertrophy Syndromes,Angiopathies, Congenital Dysplastic,Angiopathy, Congenital Dysplastic,Congenital Dysplastic Angiopathies,Disease, Klippel-Trenaunay,Dysplastic Angiopathies, Congenital,Dysplastic Angiopathy, Congenital,KTW Syndromes,Klippel Trenaunay Disease,Klippel Trenaunay Weber Syndrome,Klippel Trénaunay Weber Syndrome,Klippel-Trenaunay Syndromes,Syndrome, Angio-Osteohypertrophy,Syndrome, Angioosteohypertrophy,Syndrome, KTW,Syndrome, Klippel Trenaunay,Syndrome, Klippel-Trenaunay,Syndrome, Klippel-Trenaunay-Weber,Syndrome, Klippel-Trénaunay-Weber,Syndromes, Angio-Osteohypertrophy,Syndromes, Angioosteohypertrophy,Syndromes, KTW,Syndromes, Klippel-Trenaunay
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D005260	Female		Females
D006391	Hemangioma	A vascular anomaly due to proliferation of BLOOD VESSELS that forms a tumor-like mass. The common types involve CAPILLARIES and VEINS. It can occur anywhere in the body but is most frequently noticed in the SKIN and SUBCUTANEOUS TISSUE. (from Stedman, 27th ed, 2000)	Angioma,Chorioangioma,Hemangioma, Histiocytoid,Hemangioma, Intramuscular,Chorangioma,Chorangiomas,Chorioangiomas,Hemangiomas,Hemangiomas, Histiocytoid,Hemangiomas, Intramuscular,Histiocytoid Hemangioma,Histiocytoid Hemangiomas,Intramuscular Hemangioma,Intramuscular Hemangiomas
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014470	Umbilical Cord	The flexible rope-like structure that connects a developing FETUS to the PLACENTA in mammals. The cord contains blood vessels which carry oxygen and nutrients from the mother to the fetus and waste products away from the fetus.	Cord, Umbilical,Cords, Umbilical,Umbilical Cords
D016216	Ultrasonography, Prenatal	The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.	Fetal Ultrasonography,Prenatal Diagnosis, Ultrasonic,Ultrasonography, Fetal,Diagnosis, Prenatal Ultrasonic,Diagnosis, Ultrasonic Prenatal,Prenatal Ultrasonic Diagnosis,Prenatal Ultrasonography,Ultrasonic Diagnosis, Prenatal,Ultrasonic Prenatal Diagnosis,Diagnoses, Prenatal Ultrasonic,Diagnoses, Ultrasonic Prenatal,Prenatal Diagnoses, Ultrasonic,Prenatal Ultrasonic Diagnoses,Ultrasonic Diagnoses, Prenatal,Ultrasonic Prenatal Diagnoses