Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
BMC Pediatrics
Published in: BMC Pediatrics 1/2019

Open Access 01-12-2019 | Varicosis | Case report

An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report

Authors: Rawan M. Al-Najjar, Rafael Fonseca

Published in: BMC Pediatrics | Issue 1/2019

Login to get access

Abstract

Background

Klippel-Trénaunay syndrome (KTS) is a rare congenital condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft tissue hypertrophy.

Case presentation

Here we report the first case of a one-day-old male with KTS presenting with crossed-bilateral limb hypertrophy and post-axial polydactyly.

Conclusion

This case serves to highlight the variable presentation and multiple problems faced by patients with KTS and why multidisciplinary management is mandatory.
Literature
1.
Zea MI, Hanif M, Habib M, Ansari A. Klippel-Trenaunay syndrome: a case report with brief review of literature. J Dermatol Case Rep. 2009;3(4):56–9.PubMedPubMedCentral
2.
Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P. Klippel-Trenaunay syndrome: spectrum and management. Mayo Clin Proc. 1998;73(1):28–36.CrossRef
3.
Garzon MC, Huang JT, Enjolras O, Frieden IJ. Vascular malformations. Part II: associated syndromes. J Am Acad Dermatol. 2007;56(4):541–64.CrossRef
4.
Aelvoet GE, Jorens PG, Roelen LM. Genetic aspects of the Klippel-Trenaunay syndrome. Br J Dermatol. 1992;126(6):603–7.CrossRef
5.
Hofer T, Frank J, Itin PH. Klippel-Trenaunay syndrome in a monozygotic male twin: supportive evidence for the concept of paradominant inheritance. Eur J Dermatol. 2005;15(5):341–3.PubMed
6.
Gloviczki P, Driscoll DJ. Klippel-Trenaunay syndrome: current management. Phlebology. 2007;22(6):291–8.CrossRef
7.
Peng HH, Wang TH, Chao AS, Chang YL, Shieh SC, Chang SD. Klippel-Trenaunay-weber syndrome involving fetal thigh: prenatal presentations and outcomes. Prenat Diagn. 2006;26(9):825–30.CrossRef
8.
Redondo P, Bastarrika G, Aguado L, Martinez-Cuesta A, Sierra A, Cabrera J, Alonso-Burgos A. Foot or hand malformations related to deep venous system anomalies of the lower limb in Klippel-Trenaunay syndrome. J Am Acad Dermatol. 2009;61(4):621–8.CrossRef
9.
Baba A, Yamazoe S, Okuyama Y, Shimizu K, Kobashi Y, Nozawa Y, Munetomo Y, Mogami T. A rare presentation of Klippel-Trenaunay syndrome with bilateral lower limbs. J Surg Case Rep. 2017;2017(2):rjx024.CrossRef
10.
McGrory BJ, Amadio PC, Dobyns JH, Stickler GB, Unni KK. Anomalies of the fingers and toes associated with Klippel-Trenaunay syndrome. J Bone Joint Surg Am. 1991;73(10):1537–46.CrossRef
11.
Oguz ID, Gonul M, Kulcu Cakmak S, Gul U. Klippel-Trenaunay syndrome with rudimentary polydactyly. Int J Dermatol. 2015;54(4):465–7.CrossRef
12.
Sah RK, Sharma S, Ghimire S, Bagale BB, Kayastha M, Chapagain RH. Klippel-Trenaunay syndrome: a case report. J Nepal Health Res Counc. 2016;14(33):135–9.PubMed
13.
Sunar H, Halici U, Duran E. Klippel-Trenaunay syndrome associated with polydactyly. Clin Anat. 2006;19(1):78–81.CrossRef
14.
Mirzaa G, Conway R, Graham JM Jr, Dobyns WB. PIK3CA-Related Segmental Overgrowth. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews. Seattle (WA); 1993.
15.
Vahidnezhad H, Youssefian L, Uitto J. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). Exp Dermatol. 2016;25(1):17–9.CrossRef
Metadata
Title
An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report
Authors
Rawan M. Al-Najjar
Rafael Fonseca
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2019
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-019-1480-0

Other articles of this Issue 1/2019

BMC Pediatrics 1/2019 Go to the issue

Case report

A unique case of acute brain haemorrhage with left ventricular systolic failure requiring ECMO

Research article

Family dissolution and children’s social well-being at school: a historic cohort study

Case report

Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome

Research article

Effects of dietary intervention on vitamin B12 status and cognitive level of 18-month-old toddlers in high-poverty areas: a cluster-randomized controlled trial

Research article

Changes in incidence and etiology of early-onset neonatal infections 1997–2017 – a retrospective cohort study in western Sweden

Research article

Clinical manifestations and anti-TNF alpha therapy of juvenile Behçet’s disease in Taiwan