Papers: Diagnostic Criteria

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

Publish Date: January 06, 2012

Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, Devries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB.

Am J Med Genet A.

Tags: Nomenclature (3), Brain Findings (11), Free Full Text (7), Diagnostic Criteria (5), MPPH Syndrome (9)

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.

Publish Date: November 12, 2010

Martínez-Glez V, Romanelli V, Mori MA, Gracia R, Segovia M, González-Meneses A, López-Gutierrez JC, Gean E, Martorell L, Lapunzina P

Am J Med Genet A

Tags: Diagnostic Criteria (5)

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

Publish Date: March 2009

Wright DR, Frieden IJ, Orlow SJ, Shin HT, Chamlin S, Schaffer JV, Paller AS

Arch Dermatol

Tags: Free Full Text (7), Diagnostic Criteria (5)

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

Publish Date: February 14, 2000

Franceschini P, Licata D, Di Cara G, Guala A, Franceschini D, Genitori L

Am J Med Genet

Tags: Diagnostic Criteria (5)

Macrocephaly—cutis marmorata telangiectatica congenita: report of five patients and a review of the literature.

Publish Date: January 2000

Robertson SP, Gattas M, Rogers M, Adès LC

Clin Dysmorphol

Tags: Diagnostic Criteria (5)