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MRI findings in macrocephaly-cutis marmorata telangiectatica congenita

✍ Scribed by Carcao, Manuel; Blaser, Susan I.; Grant, Ronald M.; Weksberg, Rosanna; Siegel-Bartelt, Jacqueline

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
28 KB
Volume
76
Category
Article
ISSN
0148-7299

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✦ Synopsis

We describe a child with macrocephalycutis marmorata telangiectatica congenita (M-CMTC), cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia, and cutis marmorata telangiectasia congenita of the trunk, and visceral and subcutaneous cavernous hemangiomas. The megalencephaly is accompanied by MRI findings of CNS dysgenesis with protrusion of the cerebellar tonsils through the foramen magnum (Chiari I), lumbar syrinx, and hydrops of the optic nerves. The report of this additional patient further confirms the newly described macrocephaly-cutis marmorata telangiectatica congenita as a distinct clinical phenotype.

πŸ“œ SIMILAR VOLUMES

Macrocephaly-cutis marmorata telangiecta
Macrocephaly-cutis marmorata telangiectatica congenita without cutis marmorata?
✍ Franceschini, P.; Licata, D.; Di Cara, G.; Guala, A.; Franceschini, D.; Genitori πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 34 KB

We report on two patients with clinical manifestations consistent with a diagnosis of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC). Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtrum, nose, and lips, and redundant skin. In addition,

Accurately renaming macrocephaly-cutis m
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM)
✍ Helga V. Toriello; John B. Mulliken πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 57 KB

Herein, we rectify the nomenclature for macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC). The vascular stains in this condition are capillary anomalies and thus, the disorder should be called macrocephaly-capillary malformation (M-CM).