CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.

Papadopoulou, Eleftheria; Sifakis, Stavros; Sol-Church, Katia; Klein-Zighelboim, Eva; Stabley, Deborah L; Raissaki, Maria; Gripp, Karen W; Kalmanti, Maria

Papadopoulou, Eleftheria; Sifakis, Stavros; Sol-Church, Katia; Klein-Zighelboim, Eva; Stabley, Deborah L; Raissaki, Maria; Gripp, Karen W; Kalmanti, Maria.

Affiliation

Papadopoulou E; Department of Pediatrics, University Hospital of Heraklion, Crete, Greece. ritsapap@yahoo.com

Am J Med Genet A ; 155A(3): 605-11, 2011 Mar.

Article in En | MEDLINE | ID: mdl-21337689

Subject(s)

Central Nervous System/abnormalities; Diagnostic Imaging; Base Sequence; Brain/abnormalities; Child; Child, Preschool; DNA Mutational Analysis; Ectodermal Dysplasia/diagnosis; Ectodermal Dysplasia/enzymology; Ectodermal Dysplasia/genetics; Facies; Failure to Thrive/diagnosis; Failure to Thrive/enzymology; Failure to Thrive/genetics; Female; Germ-Line Mutation/genetics; Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/enzymology; Heart Defects, Congenital/genetics; Humans; Infant; Infant, Newborn; MAP Kinase Kinase 1/genetics; Magnetic Resonance Imaging; Male; Molecular Sequence Data; Parents; Pregnancy

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Full text: 1 Database: MEDLINE Main subject: Diagnostic Imaging / Central Nervous System Type of study: Diagnostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy Language: En Year: 2011 Type: Article

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