Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): Report of six cases of a new syndrome/association

American Journal of Medical Genetics, Part A

Volumn 146, Issue 20, 2008, Pages 2583-2588

  López Gutiérrez, Juan Carlos ^a   Lapunzina, Pablo ^a,b,c  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Asymmetry; Capillary malformation; Face; Lower lip; Lymphatic malformation; Neck; New association; New syndrome; Overgrowth; Venous malformation

Indexed keywords

PICIBANIL;

ADOLESCENT; ADULT; ARTICLE; BLEEDING; CAPILLARY MALFORMATION OF THE LOWER LIP LYMPHATIC MALFORMATION OF THE FACE AND NECK ASYMMETRY AND PARTIAL GENERALIZED OVERGROWTH SYNDROME; CHILD; CLINICAL ARTICLE; CONGENITAL BLOOD VESSEL MALFORMATION; FACE DYSMORPHIA; FEMALE; GROWTH DISORDER; HISTOLOGY; HUMAN; INFANT; INFECTION; KARYOTYPE; LABORATORY TEST; LASER COAGULATION; LIP MALFORMATION; MALE; MALOCCLUSION; MORBIDITY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHARYNX DISEASE; PRIORITY JOURNAL; SCLEROTHERAPY; SWELLING; TONGUE DISEASE;

ABNORMALITIES, MULTIPLE; ADULT; ANGIOGRAPHY, DIGITAL SUBTRACTION; CAPILLARIES; CHILD; FACE; FACIAL ASYMMETRY; FEMALE; HUMANS; INFANT; LIP; LOWER EXTREMITY; LYMPHATIC ABNORMALITIES; LYMPHATIC VESSELS; MAGNETIC RESONANCE IMAGING; MALE; NECK; PORT-WINE STAIN; SYNDROME; TONGUE; VASCULAR MALFORMATIONS;

EID: 55549142216     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32517     Document Type: Article

References (17)

1. Arai E, Kuramochi A, Tsuchida T, Tsuneyoshi M, Kage M, Fukunaga M, Ito T, Tada T, Izumi M, Shimizu K, Hirose T, Shimizu M. 2006. Usefulness of D2-40immunohistochemistry for differentiation between kaposiform hemangioendothelioma and tufted angioma. J Cutan Pathol 33:492-497.
2. Bisdorff A, Mulliken JB, Carrico J, Robertson RL, Burrows PE. 2007. Intracranial vascular anomalies in patients with periorbital lymphatic and lymphaticovenous malformations. AJNR Am J Neuroradiol 28:335-341.
3. Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, Mueller RF, Brueton L, Super M, Steen-Johnsen J, Donnai D. 1997. Macrocephaly with cutis marmorata, haemangioma and syndactyly - A distinctive overgrowth syndrome. Clin Dysmorphol 6:291-302.
4. Cohen MM Jr. 2000. Klippel-Trenaunay syndrome. Am J Med Genet 93:171-175.
5. Cohen MM Jr. 2002. Vasculogenesis, angiogenesis, hemangiomas and vascular malformations. Am J Med Genet 108:265-274.
6. Cohen MM Jr. 2006. Vascular update: Morphogenesis, tumors, malformations and molecular dimensions. Am J Med Genet Part A 140A:2013-2038.
7. Cohen MM Jr, Neri G, Weksberg R. 2002. Overgrowth syndromes. New York: Oxford University Press.
8. Kaplan I, Mass E, Littner M. 1998. A study of small superficial capillary hemangiomas on the lips in children. Pediatr Dent 20:188-191.
9. Lapunzina P. 2005. Risk of tumorigenesis in the overgrowth syndromes. Am J Med Genet Part C Semin Med Genet 137C:53-71.
10. Lapunzina P, Clayton-Smith J. 2007. Macrocephaly-cutis marmorata telangiectatica congenita. In: Ruggieri M, Pascual Castroviejo I, DiRocco C, editors. Neurocutaneous disorders. Phakomatoses & hamartoneoplastic syndromes. Wien: Springer.
11. Lapunzina P, López-Camelo JS, Rittler M, Castilla EE. 2002. Risks of congenital anomalies in large for gestational age infants. J Pediatr 140:200-204.
12. Lapunzina P, Gairi A, Delicado A, Mori MA, Torres ML, Goma A, Pajares IL. 2004. Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review. Am J Med Genet Part A 130A:45-51.
13. López-Gutiérrez JC, García-Miguel P. 2006. Skeletal hemangiomas and vascular malformations. J Pediatr Hematol Oncol 28:634.
14. Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB. 1997. Macrocephaly-cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 70:67-73.
15. Mulliken JB. 1997. Vascular anomalies. In: Aston SJ, Beasley RW, Thorne CIIM, editors. Grabb and Smith's plastic surgery 5th edition. Philadelphia: Lippincott-Raven. p 191-203.
16. Mulliken JB, Glowacki J. 1982. Hemangiomas and vascular malformations in infants and children: A classification based on endothelial characteristics. Plast Reconstr Surg 69:412-420.
17. Toriello HV, Mulliken JB. 2007. Accurately renaming macrocephaly-cutis marmorata telangiectatica congenital (M-CMTC) as macrocephaly-capillary malformation (M-CM). Am J Med Genet Part A 143A:3009.