Macrocephaly with cutis marmorata, haemangioma and syndactyly ??? a distinctive overgrowth syndrome

Macrocephaly‐cutis marmorata telangiectatica congenita: Report of six new patients and a review

“…We agree with Clayton-Smith et al [1997] that at least three patients included in the Ringrose et al [1965] review of hemihypertrophy may well have M-CMTC. Clayton-Smith et al [1997] also noted that one patient in the report of Stephan et al [1975] probably had the disorder.…”

“…We agree with Clayton-Smith et al [1997] that at least three patients included in the Ringrose et al [1965] review of hemihypertrophy may well have M-CMTC. Clayton-Smith et al [1997] also noted that one patient in the report of Stephan et al [1975] probably had the disorder. After a careful review of the study by Stephan et al [1975], we decided to include as cases four patients (patients 7-10) since all have cutis marmorata telangiectatica congenita (CMTC), 52 (90) 51 (75) 51 ( macrocephaly, macrosomia, asymmetric hypertrophy and one of them, developmental delay, all findings quite characteristic of M-CMTC.…”

Macrocephaly‐cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations

“…One patient had a complex congenital heart defect (CHD), which was thought to have contributed to death [Clayton-Smith et al, 1997]. The three cases reported by Yano and Watanabe [2001] had a distinctive clinical course.…”

Vascular Pathologies: Angiogenomics: towards a genetic nosology and understanding of vascular anomalies

“…Similar vascular lesions that affect the subepidermal capillary network include, for example, (1) telangiectasias that vary from small punctate lesions to large geographic areas consisting of non-homogenously affected areas; (2) capillary malformations that can also be small or extensive, but which are usually more homogeneous, less bright in color, and darken with age; (3) atypical capillary malformations that are pinkish gray in color with a white halo, caused by a RASA1 mutation; and (4) faint capillary stains that can be encountered for example, as cutis marmorata telangiectatica congenita (CMTC) or associated with soft tissue and bony hypertrophy, such as in macrocephaly-capillary malformation (M-CM). 5 Because of the rarity of angioma serpiginosum and the limited number of affected individuals in the described X-linked family, it is impossible to say whether the lesions now described are the same as those defined by Hutchinson. On the basis of the clinical phenotype, the history of very slow progression of the lesions, and the presence of enlarged thick-walled capillaries in histological sections, the lesions in this X-linked family could be classified, following the ISSVA classification, under capillary anomalies or further defined as progressive patchy capillary malformations.…”