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MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.
- Source :
-
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2005; Vol. 16 (2), pp. 117-28. - Publication Year :
- 2005
-
Abstract
- MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.
- Subjects :
- Abnormalities, Multiple diagnosis
Abnormalities, Multiple genetics
Brain pathology
Child
Child, Preschool
Craniofacial Abnormalities genetics
Developmental Disabilities diagnosis
Developmental Disabilities genetics
Female
Follow-Up Studies
Functional Laterality genetics
Growth Disorders diagnosis
Growth Disorders genetics
Humans
Infant
Infant, Newborn
Phenotype
Skin Abnormalities genetics
Skin Diseases, Vascular genetics
Syndactyly diagnosis
Syndactyly genetics
Syndrome
Telangiectasis genetics
Craniofacial Abnormalities diagnosis
Magnetic Resonance Imaging
Skin Abnormalities diagnosis
Skin Diseases, Vascular diagnosis
Telangiectasis diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1015-8146
- Volume :
- 16
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Genetic counseling (Geneva, Switzerland)
- Publication Type :
- Academic Journal
- Accession number :
- 16080291