Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.
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.
Lapunzina
Pablo
P
Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain. plapunzina.hulp@salud.madrid.org
Gairí
Alba
A
Delicado
Alicia
A
Mori
M Angeles
MA
Torres
M Luisa de
ML
Goma
Anton
A
Navia
Marcelo
M
Pajares
Isidora López
IL
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