Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?
We report a male patient with increased birth weight and growth, cutis marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly cutis marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature.
Mégarbané
André
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
Haddad
Joseph
J
Lyonnet
Stanislass
S
Clayton-Smith
Jill
J
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D019465:Craniofacial Abnormalities; D003937:Diagnosis, Differential; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D007223:Infant; D008201:Lymphangiectasis, Intestinal / Q000473:pathology*; D008297:Male; D017689:Polydactyly / Q000473:pathology*; D012868:Skin Abnormalities; D013577:Syndrome; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000473:pathology