title: Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.
abstract: We report on six additional patients with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC; MIM 602501) and review the literature. This syndrome is a multiple congenital anomalies/mental retardation and overgrowth disorder comprising macrocephaly, cutis marmorata, vascular marks of lip and/or philtrum, syndactyly, hemihypertrophy, CNS anomalies, and developmental delay. Based on the findings in our 6 patients and on 69 patients previously reported we listed the very frequent (observed in >75%), frequent (25-75%), and less frequent (>25%) components of the syndrome.
authors.affiliation: Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain. plapunzina.hulp@salud.madrid.org
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
authors.forename: Alba
authors.initials: A
authors.lastname: Gairí
authors.forename: Alicia
authors.initials: A
authors.lastname: Delicado
authors.forename: M Angeles
authors.initials: MA
authors.lastname: Mori
authors.forename: M Luisa de
authors.initials: ML
authors.lastname: Torres
authors.forename: Anton
authors.initials: A
authors.lastname: Goma
authors.forename: Marcelo
authors.initials: M
authors.lastname: Navia
authors.forename: Isidora López
authors.initials: IL
authors.lastname: Pajares
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D009421:Nervous System Malformations; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D013684:Telangiectasis / Q000151:congenital* / Q000473:pathology