Premium
Macrocephaly‐cutis marmorata telangiectatica congenita: Report of six new patients and a review
Author(s) -
Lapunzina Pablo,
Gairí Alba,
Delicado Alicia,
Mori M. Angeles,
Torres M. Luisa de,
Goma Anton,
Navia Marcelo,
Pajares Isidora López
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30235
Subject(s) - macrocephaly , hemihypertrophy , syndactyly , medicine , dermatology , pediatrics , anatomy , pathology
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. © 2004 Wiley‐Liss, Inc.