Total: 2 |
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PMID (PMCID) | ||
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15337471 |
MALE | Infant, Newborn |
A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features. | ||
Akcar N, Adapinar B, Dinleyici C, Durak B, Ozkan IR. Ann Genet. 2004;47(3):261-5. |
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Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. | ||
11477607 |
MIXED_SAMPLE | Infant |
Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome. | ||
Yano S, Watanabe Y. Am J Med Genet. 2001;102(2):149-52. |
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Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly. |