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.
MeSH terms
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Adolescent
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Cephalometry
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Child
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Child, Preschool
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Craniofacial Abnormalities / diagnosis
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Craniofacial Abnormalities / genetics*
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Follow-Up Studies
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Humans
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Infant
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Infant, Newborn
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics
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Male
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Muscle Hypotonia / diagnosis
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Muscle Hypotonia / genetics
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Skin Diseases, Genetic / diagnosis
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Skin Diseases, Genetic / genetics*
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Syndrome
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Telangiectasia, Hereditary Hemorrhagic / diagnosis
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Telangiectasia, Hereditary Hemorrhagic / genetics*