Accurately renaming Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC) as Macrocephaly-Capillary Malformation (M-CM) [1]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 24, 2007, Pages 3009-

  Toriello, Helga V ^a   Mulliken, John B ^b  

^a SPECTRUM HEALTH   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN CAPILLARY; BRAIN MALFORMATION; CUTIS MARMORATA TELANGIECTATICA CONGENITA; HEMANGIOMA; HUMAN; HYPERTROPHY; LETTER; LIMB MALFORMATION; MACROCEPHALY; PRIORITY JOURNAL; VASCULAR LESION;

ABNORMALITIES, MULTIPLE; ATROPHY; CRANIOFACIAL ABNORMALITIES; HUMANS; INFANT, NEWBORN; SKIN; SKIN ABNORMALITIES; SKIN DISEASES, VASCULAR; SYNDROME; TELANGIECTASIS; TERMINOLOGY AS TOPIC;

EID: 37249063121     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31971     Document Type: Letter

References (4)

1. Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RCM, Mueller RF, Bruteon 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.
2. Cohen MM Jr, Neri G, Weksberg R. 2002. Overgrowth syndromes. New York: Oxford University Press. p 169-171.
3. Lapunzina P, Gaire A, Delicado A, Mori MA, Torres ML, Goma A, Navia M, 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.
4. Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry C Jr, 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.