title: Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.
abstract: Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a recently described multiple congenital anomaly/mental retardation (MCA/MR) syndrome of unknown cause. This condition is easily recognizable at birth in children with macrocephaly, cutis marmorata, face and/or body segmental overgrowth, toe syndactyly, midface capillary malformation, and hemimegalencephaly. Cutis marmorata may be absent in some cases. Most patients are developmentally delayed. We describe seven new patients, including two with unusual cerebral manifestations and severe outcome. One of two had a complex congenital heart defect (CHD) and died in the neonatal period. Brain magnetic resonance imaging (MRI) showed generalized cortical dysplasia. The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M-CMTC is a generalized vasculopathy.
authors.affiliation: Unité de Génétique Médicale, Hôpital l'Archet II, Nice, France. giuliano@unice.fr
authors.forename: Fabienne
authors.initials: F
authors.lastname: Giuliano
authors.forename: Albert
authors.initials: A
authors.lastname: David
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
authors.forename: Sabine
authors.initials: S
authors.lastname: Sigaudy
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000473:pathology; D012868:Skin Abnormalities / Q000473:pathology*; D012886:Skull / Q000002:abnormalities; D013576:Syndactyly / Q000473:pathology; D013577:Syndrome; D013684:Telangiectasis / Q000151:congenital* / Q000175:diagnosis*