title: The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents.
abstract: We present the clinical history and findings in 4 children and adolescents with the association of macrocephaly and cutis marmorata telangiectatica congenita (Macrocephaly-CMTC syndrome). This syndrome has recently been delineated within the general group of patients with manifestations of cutis marmorata telangiectatica-Klippel-Trenaunay-Weber syndrome as a clinically recognisable entity.
authors.affiliation: Center for Human Genetics, Leuven, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Vogels
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: E
authors.initials: E
authors.lastname: Legius
authors.forename: P
authors.initials: P
authors.lastname: Decock
authors.forename: J
authors.initials: J
authors.lastname: Marien
authors.forename: G
authors.initials: G
authors.lastname: Hendrickx
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000293:Adolescent; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis / Q000235:genetics*