The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents.
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.
Vogels
A
A
Center for Human Genetics, Leuven, Belgium.
Devriendt
K
K
Legius
E
E
Decock
P
P
Marien
J
J
Hendrickx
G
G
Fryns
J P
JP
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*