Macrocephaly-cutis marmorata telangiectatica congenita;Syndrome macrocéphalie-cutis marmorata telangiectatica congenita

Annales de Dermatologie et de Venereologie

Volumn 133, Issue 4, 2006, Pages 349-352

  Girard, C ^a   Bessis, D ^a   Guillot, B ^a  

^a HÔPITAL SAINT ELOI   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CUTIS MARMORATA TELANGIECTATICA CONGENITA; DISEASE SEVERITY; HUMAN; INFANT; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PSYCHOMOTOR DEVELOPMENT;

EID: 33744927885     PISSN: 01519638     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0151-9638(06)70913-9     Document Type: Article

References (18)

1. Enjolras O. Cutis marmorata telangiectatica congenita. Ann Dermatol Venereol 2001;128:161-6.
2. Devillers AC, de Waard-van der Spek FB, Oranje AP. Cutis marmorata telangiectatica congenita: clinical features in 35 cases. Arch Dermatol 1999;135:34-8.
3. Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A. Cutis marmorata telangiectatica congenita: clinical findings in 85 patients. Pediatr Dermatol 2000;17:100-4.
4. Pehr K, Moroz B. Cutis marmorata telangiectatica congenita: long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism. Pediatr Dermatol 1993;10:6-11.
5. Maroteaux P. Les asymétries corporelles et les hypertrophies partielles. Ann Dermatol Venereol 1988;115:221-8.
6. Turner JT, Cohen MM Jr, Biesecker LG. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet 2004;130A:111-22.
7. Herbreteau D, Cottier JP, Brunereau L, Delhommais A, Lorette G. Le syndrome de Klippel-Trenaunay. Ann Dermatol Venereol 1999;126:736-9.
8. Fargnoli MC, Orlow SJ, Semel-Concepcion J, Bolognia JL. Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. Arch Dermatol 1996;132:1214-8.
9. Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly - a distinctive overgrowth syndrome. Clin Dysmorphol 1997;6: 291-302.
10. Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, et al. Macrocephaly-cutis marmorata telangiectatica congenita : a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 1997;70:67-73.
11. Lapunzina P, Gairi A, Delicado A, Mori MA, Torres ML, Goma A, et al. Macrocephaly-cutis marmorata telangiectatica congenital report of six new patients and a review. Am J Med Genet. 2004;130A:45-51.
12. Robertson SP, Gattas M, Rogers M, Ades LC. Macrocephaly-cutis marmorata telangiectatica congenital report of five patients and a review of the literature. Clin Dysmorphol 2000;9:1-9.
13. 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;90:265-9.
14. Vogels A, Devriendt K, Legius E, Decock P, Marien J, Hendrickx G, et al. The macrocephaly - cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents. Genet Couns 1998;9:245-53.
15. Berbel Tornero O, Rometsch S, Ridaura Gastaldo S, Perez-Aytes A. Macrocefalia-cutis marmorata telangiectatica congenital un nuevo caso de una entidad recientemente reconocida. An Esp Pediatr 1999;51:399-401.
16. Cristaldi A, Vigevano F, Antoniazzi G, di Capua M, Andreuzzi A, Morselli G, et al. Hemimegalencephaly, hemihypertrophy and vascular lesions. Eur J Pediatr 1995;154:134-7.
17. Stoll C. Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation. Genet Couns 2003;14:173-9.
18. 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(Suppl):187.