Antenatal Diagnosis of Klippel鈥揟renaunay鈥揥eber Syndrome

详细信息    查看全文

• 作者：Ashutosh Gupta ; Anjila Aneja ; Sanjay Mehta ; Pankaj Saini
• 关键词：Hemangioma ; Hypertrophy ; Sequestration
• 刊名：Journal of Fetal Medicine
• 出版年：2015
• 出版时间：June 2015
• 年：2015
• 卷：2
• 期：2
• 页码：83-86
• 全文大小：865KB
• 参考文献：1.Fait G, Daniel Y, Kupferminc MJ, et al. Klippel-Trenaunay-Weber syndrome associated with fetal growth restriction. Hum Reprod. 1996;11:2544鈥?.CrossRef PubMed
  2.Klippel M, Trenaunay P. Du naevus vanquex osteohypertrophique. Arch Gin Med. 1990;3:641鈥?2.
  3.Hatjis CG, Philip AG, Anderson GG, et al. The in utero ultrasonographic appearance of Klippel鈥揟renaunay鈥揥eber syndrome. Am J Obstet Gynecol. 1981;139(8):972鈥?.PubMed
  4.Meine JG, Schwartz RA, Janniger CK. Klippel鈥揟renaunay鈥揥eber syndrome. Cutis. 1997;60(3):127鈥?2.PubMed
  5.Samuel M, Spitz L. Klippel-Trenaunay syndrome: clinical features, complications and management in children. Br J Surg. 1995;82(6):757鈥?1.CrossRef PubMed
  6.Baskervill PA, Ackroyd JS, Browse NL. The etiology of the Klippel-Trenaunay syndrome. Ann Surg. 1985;202(5):624鈥?.CrossRef
  7.Hu Y, Li L, Seidelmann SB, et al. Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program. Ann Hum Genet. 2008;72(5):636鈥?3.PubMed Central CrossRef PubMed
  8.Berry SA, Peterson C, Mize W, et al. Klippel-Trenaunay syndrome. Am J Med Genet. 1998;79(4):319鈥?6.CrossRef PubMed
  9.Whelan AJ, Watson MS, Porter FD, et al. Klippel-Trenaunay-Weber syndrome associated with a balanced translocation. Am J Med Genet. 1995;59(4):492鈥?.CrossRef PubMed
  10.Wang Q, Timur AA, Szafranski P, et al. Identification and molecular characterization of de novo translocation t (8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome. Cytogenet Cell Genet. 2001;95(3鈥?):183鈥?.PubMed Central CrossRef PubMed
  11.Zoppi MA, Ibba RM, Floris M, et al. Prenatal sonographic diagnosis of Klippel-Tr茅naunay-Weber syndrome with cardiac failure. J Clin Ultrasound. 2001;29(7):422鈥?.CrossRef PubMed
  
• 作者单位：Ashutosh Gupta (1)
  Anjila Aneja (2)
  Sanjay Mehta (3)
  Pankaj Saini (3)
  
  1. Department of Fetal Medicine and Clinical Geneticist, Max Super Speciality Hospital, West Block, 1 Press Enclave Road, Saket, New Delhi, 110017, India
  2. Department of Minimal Access & OBGYN, Fortis Memorial Research Institute, Gurgaon, Haryana, India
  3. Department of Radiology, Artemis Health Institute, Gurgaon, Haryana, India
  
• 刊物类别：Maternal and Child Health; Diagnostic Radiology; Ultrasound; Obstetrics/Perinatology; Reproductive M
• 刊物主题：Maternal and Child Health; Diagnostic Radiology; Ultrasound; Obstetrics/Perinatology; Reproductive Medicine;
• 出版者：Springer India
• ISSN：2348-8859

文摘

Klippel鈥揟renaunay鈥揥eber syndrome (KTWS) is a rare congenital disease characterized by cutaneous hemangiomas, soft tissue, and bone hypertrophy. It may be associated with arteriovenous malformation involving deeper pelvic organs. We present a prenatally-diagnosed case of KTWS identified at 26 weeks. Antenatal ultrasound identified subcutaneous hemangioma with soft tissue hypertrophy with unilateral hypertrophy of the lower extremity with right renal hydronephrosis. During the rest antenatal period, KTWS did not deteriorate and was not complicated by acute enlargement and sequestration and Kasabach鈥揗erritt syndrome. Keywords Hemangioma Hypertrophy Sequestration