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: A Vogels, K Devriendt, E Legius, P Decock, J Marien, G Hendrickx, J P Fryns
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 9 Issue 4 Pg. 245-53 ( 1998) ISSN: 1015-8146 [Print] Switzerland
• PMID: 9894160 (Publication Type: Journal Article)

Topics

• Adolescent
• Cephalometry
• Child
• Child, Preschool
• Craniofacial Abnormalities (diagnosis, genetics)
• Follow-Up Studies
• Humans
• Infant
• Infant, Newborn
• Intellectual Disability (diagnosis, genetics)
• Male
• Muscle Hypotonia (diagnosis, genetics)
• Skin Diseases, Genetic (diagnosis, genetics)
• Syndrome
• Telangiectasia, Hereditary Hemorrhagic (diagnosis, genetics)