Parkes Weber syndrome occurring in a family with capillary malformations

Clinical Dysmorphology

Volumn 16, Issue 3, 2007, Pages 167-171

  Brunetti Pierri, Nicola ^a   Seidel, Glen F ^a   Levy, Moise L ^a   Reid Sutton, V ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Arteriovenous fistula; Capillary malformations; Klippel Trenaunay syndrome; Parkes Weber syndrome

Indexed keywords

ANGIOOSTEOHYPERTROPHY SYNDROME; ARTERIOVENOUS FISTULA; ARTICLE; CASE REPORT; CLINICAL FEATURE; HEMANGIOMA; HEMODYNAMICS; HUMAN; MALE; NEVUS FLAMMEUS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; VARICOSIS;

ABNORMALITIES, MULTIPLE; CAPILLARIES; FEMALE; FEMORAL ARTERY; HUMANS; INFANT, NEWBORN; LEG; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; PEDIGREE; SYNDROME;

EID: 34249989700     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3280f6cff2     Document Type: Article

References (21)

1. Barker KT, Foulkes WD, Schwartz CE, Labadie C, Monsell F, Houlston RS, Harper J (2006). Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? J Med Genet 43:613-614.
2. Barsky SH, Rosen S, Geer DE, Noe JM (1980). The nature and evolution of port wine stains: a computer-assisted study. J Invest Dermatol 74:154-157.
3. Berg JN, Quaba AA, Georgantopoulou A, Porteous ME (2000). A family with hereditary port wine stain. J Med Genet 37:E12.
4. Berger TM, Caduff JH (1999). Hemodynamic observations in a newborn with Parkes-Weber syndrome. J Pediatr 134:513.
5. Breugem CC, Van der Horst CMAM, Hennekam RCM (2001). Progress toward understanding vascular malformations. Plast Reconstr Surg 107:1509-1523.
6. Cohen MM Jr (2000). Klippel-Trenaunay syndrome. Am J Med Genet 93:171-175.
7. Courivaud D, Delerue A, Delerue C, Boon L, Piette F, Modiano P (2006). Familial case of Parkes-Weber syndrome. Ann Dermatol Venereol 133:445-447.
8. Eerola I, Boon LM, Watanabe S, Grynberg H, Mulliken JB, Vikkula M (2002). Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q. Eur J Hum Genet 10:375-380.
9. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, et al. (2003). Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 73:1240-1249.
10. Jacobs AH, Walton RG (1976). The incidence of birthmarks in the neonate. Pediatrics 58:218-222.
11. Lindenauer SM (1965). The Klippel-Trenaunay syndrome: varicosity, hyperthrophy and hemangioma with no arteriovenous fistula. Ann Surg 162:303-314.
12. Mills CM, Lanigan SW, Hughes J, Anstey AV (1997). Demographic study of port wine stain patients attending a laser clinic: family history, prevalence of naevus anaemicus and results of prior treatment. Clin Exp Dermatol 22:166-168.
13. Mulliken JB, Young AE (1988). Vascular birthmarks: hemangiomas and malformations. Philadelphia, PA: WB Sanders.
14. Parkes Weber F (1918). Hemangiectatic hyperthrophy of limbs - congenital phlebacteriectasis and so-called congenital varicose veins. Br J Child Dis 15:13.
15. Pasyk KA (1992). Familial multiple lateral telangiectatic nevi (port-wine stain). Clin Genet 41:197-201.
16. Redondo P, Vazquez-Doval FJ (1996). Familial multiple nevi flammei. J Am Acad Dermatol 35:769-770.
17. Roebuck DJ (1997). Klippel-Trenaunay and Parkes-Weber syndromes. AJR Am J Roentgenol 169:311-312.
18. Samuel M, Spitz L (1995). Klippel-Trenaunay syndrome: clinical features, complications and management in children. Br J Surg 82:757-761.
19. Servelle M (1985). Klippel and Trenaunay's syndrome. 768 operated cases. Ann Surg 201:365-373.
20. Shelley WB, Livingood CS (1949). Familial multiple nevi flammei. Arch Dermatol Syph 59:343-345.
21. Tian XL, Kadaba R, You SA, Liu M, Timur AA, Yang L, et al. (2004). Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature 427:640-645.