The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome" report of 12 new cases and support for revising the name to macrocephaly-capillary malformations

Archives of Dermatology

Volumn 145, Issue 3, 2009, Pages 287-293

  Wright, Dakara Rucker ^a,e   Frieden, Ilona J ^b   Orlow, Seth J ^c   Shin, Helen T ^d   Chamlin, Sarah ^e   Schaffer, Julie V ^c   Paller, Amy S ^e,f  

^a HENRY FORD HOSPITAL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NEW YORK UNIVERSITY   (United States)

^d HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

^e NORTHWESTERN UNIVERSITY   (United States)

^f NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CAPILLARY MALFORMATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL BLOOD VESSEL MALFORMATION; CUTIS MARMORATA TELANGIECTATICA CONGENITA; FEMALE; HUMAN; INFANT; MACROCEPHALY; MACROCEPHALY CAPILLARY MALFORMATION; MALE; NEVUS FLAMMEUS; NOMENCLATURE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; FEMALE; HEAD; HUMANS; INFANT; MALE; SKIN DISEASES, VASCULAR; SYNDROME; TELANGIECTASIS; TERMINOLOGY AS TOPIC;

EID: 62649158933     PISSN: 0003987X     EISSN: 15383652     Source Type: Journal    
DOI: 10.1001/archdermatol.2008.545     Document Type: Article

References (43)

1. Clayton-Smith J, Kerr B, Brunner H, et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly: a distinctive overgrowth syndrome. Clin Dysmorphol. 1997;6(4):291-302.
2. Moore CA, Toriello HV, Abuelo DN, et al. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet. 1997;70(1):67-73.
3. Garzon MC, Huang JT, Enjolras O, et al. Vascular malformations, part II: associated syndromes. J Am Acad Dermatol. 2007;56(4):541-564.
4. Lapunzina P, Gairi A, Delicado A, et al. Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. Am J Med Genet A. 2004;130A(1):45-51.
5. Toriello HV, Mulliken JB. Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). Am J Med Genet A. 2007;143A(24):3009.
6. Franceschini P, Licata D, Di Cara G, Guala A, Franceschini D, Genitori L. Macrocephaly-cutis marmorata telangiectatica congenita without cutis marmorata? Am J Med Genet. 2000;90(4):265-269.
7. Robertson SP, Gattas M, Rogers M, Ades LC. Macrocephaly-cutis marmorata telangiectatica congenita: report of five patients and a review of the literature. Clin Dysmorphol. 2000;9(1):1-9.
8. Akcar N, Adapinar B, Dinleyici C, et al. A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features. Ann Genet. 2004; 47(3):261-265.
9. Carcao M, Blaser SI, Grant RM, Weksberg R, Siegel-Bartelt J. MRI findings in macrocephaly-cutis marmorata telangiectatica congenita. Am J Med Genet. 1998; 76(2):165-167.
10. Conway RL, Danielpour M, Graham JM Jr, Conway RL, Danielpour M, Graham JM Jr. Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita: report of three cases. J Neurosurg. 2007;106(4)(suppl):296-301.
11. Conway RL, Pressman BD, Dobyns WB, et al. Neuroimaging findings in macro-cephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A. 2007;143(24):2981-3008.
12. Dinleyici EC, Tekin N, Aksit MA, et al. Macrocephaly-cutis marmorata telangiectatica congenita with atrial septal aneurysm and magnetic resonance imaging (MRI) findings. Pediatr Int. 2004;46(3):366-367.
13. Garavelli L, Leask K, Zanacca C, et al. MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. Genet Couns. 2005;16(2):117-128.
14. Gerritsen MJ, Steijlen PM, Brunner HG, Rieu P. Cutis marmorata telangiectatica congenita: report of 18 cases. Br J Dermatol. 2000;142(2):366-369.
15. Giuliano F, David A, Edery P, et al. Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. Am J Med Genet A. 2004;126A(1):99-103.
16. Howells R, Curran A, Jardine P, Newbury-Ecob R, Sandhu B. Mesenteric angina complicating a mesodermal anomaly. Eur J Paediatr Neurol. 2000;4(4):181-183.
17. Megarbane A, Haddad J, Lyonnet S, et al. Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder? Am J Med Genet A. 2003; 116A(2):184-187.
18. Moffitt DL, Kennedy CT, Newbury-Ecob R. What syndrome is this? macrocephaly with cutis marmorata, hemangioma, and syndactyly syndrome. Pediatr Dermatol. 1999;16(3):235-237.
19. Nyberg RH, Uotila J, Kirkinen P, Rosendahl H. Macrocephaly-cutis marmorata telangiectatica congenita syndrome: prenatal signs in ultrasonography. Prenat Diagn. 2005;25(2):129-132.
20. Stephan MJ, Hall BD, Smith DW, Cohen MM Jr. Macrocephaly in association with unusual cutaneous angiomatosis. J Pediatr. 1975;87(3):353-359.
21. Stoll C. Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation. Genet Couns. 2003;14(2):173-179.
22. Thong MK, Thompson E, Keenan R, et al. A child with hemimegalencephaly, hemi-hypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia: a diagnostic dilemma. Clin Dysmorphol. 1999;8(4):283-286.
23. Vogels A, Devriendt K, Legius E, et al. The macrocephaly-cutis marmorata telangiectatica congenita syndrome: long-term follow-up data in 4 children and adolescents. Genet Couns. 1998;9(4):245-253.
24. Wroblewski I, Joannard A, Francois P, Baudain P, Beani JC, Beaudoing A. Cutis marmorata telangiectatica congenita with body asymmetry [in French]. Pediatrie. 1988;43(2):117-120.
25. Yano S, Watanabe Y. Association of arrhythmia and sudden death in macrocephaly- cutis marmorata telangiectatica congenita syndrome. Am J Med Genet. 2001; 102(2):149-152.
26. Girard C, Bessis D, Guillot B. Syndrome macrocephalie-cutis marmorata telangiectatica congenita [in French]. Ann Dermatol Venereol. 2006;133(4):349-352.
27. Berbel Tornero O, Rometsch S, Ridaura Gastaldo S, Perez-Aytes A. Macrocephalycutis marmorata telangectasica congenita: another case of a newly recognized entity [in Spanish]. An Esp Pediatr. 1999;51(4):399-401.
28. Barnicoat A, Salman M, Chitty L, Baraitser M. A distinctive overgrowth syndrome with polysyndactyly. Clin Dysmorphol. 1996;5(4):339-346.
29. Bottani A, Chevallier I, Dahoun S, Cossali D, Pfister R. Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) syndrome can be caused by diploidy/tetraploidy skin mosaicism. Eur J Hum Genet. 2000;8(3)(suppl 1):187.
30. Devillers AC, de Waard-van der Spek FB, Oranje AP. Cutis marmorata telangi-ectatica congenita: clinical features in 35 cases. Arch Dermatol. 1999;135(1):34-38.
31. López-Herce Cid J, Roche Herrero MC, Pascual-Castroviejo I. Cutis marmorata telangiectatica congenita: associated abnormalities. An Esp Pediatr. 1985;22 (8):575-580.
32. Meyer E. Neurocutaneous syndrome with excessive macrohydrocephalus (Sturge-Weber/Klippel-Trenaunay syndrome). Neuropadiatrie. 1979;10(1):67-75.
33. Reardon W, Harding B, Winter RM, Baraitser M. Hemihypertrophy, hemimega-lencephaly, and polydactyly. Am J Med Genet. 1996;66(2):144-149.
34. Cristaldi A, Vigevano F, Antoniazzi G, et al. Hemimegalencephaly, hemihypertrophy and vascular lesions. Eur J Pediatr. 1995;154(2):134-137.
35. Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A. Cutis marmorata telangiectatica congenita: clinical findings in 85 patients. Pediatr Dermatol. 2000;17(2):100-104.
36. Carter DM, Jegasothy BV. Alopecia areata and Down syndrome. Arch Dermatol. 1976;112(10):1397-1399.
37. Ercis M, Balci S, Atakan N. Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit. Clin Genet. 1996;50(5):317-320.
38. Schuster DS, Johnson SA. Cutaneous manifestations of the Cornelia de Lange syndrome. Arch Dermatol. 1966;93(6):702-707.
39. Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A. 2007;143A(24):2944-2958.
40. Kundu RV, Frieden IJ. Presence of vascular anomalies with congenital hemihy-pertrophy and Wilms tumor: an evidence-based evaluation. Pediatr Dermatol. 2003;20(3):199-206.
41. Greene AK, Kieran M, Burrows PE, et al. Wilms tumor screening is unnecessary in Klippel-Trénaunay syndrome. Pediatrics. 2004;113(4):e326-e329.
42. DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry. J Pediatr. 1998;132 (3, pt 1):398-400.
43. Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol. 1987;16(4):899-906.