Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
We describe 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. Although the condition in these children falls under the general group of disorders known as cutis marmorata telangiectatica congenita (CMTC), the constellation of abnormalities appears to constitute a distinct and easily recognizable phenotype within this general group. In contrast to most children reported with CMTC, children in this subgroup have a high risk for neurologic abnormalities, including developmental delay, mental retardation, megalencephaly, and hydrocephalus. Early recognition of this condition is important for appropriate surveillance for known complications and parental counseling.
Moore
C A
CA
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA.
Toriello
H V
HV
Abuelo
D N
DN
Bull
M J
MJ
Curry
C J
CJ
Hall
B D
BD
Higgins
J V
JV
Stevens
C A
CA
Twersky
S
S
Weksberg
R
R
Dobyns
W B
WB
D000015:Abnormalities, Multiple / Q000145:classification*; D001724:Birth Weight; D001921:Brain / Q000002:abnormalities; D003238:Connective Tissue / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000150:complications*; D002658:Developmental Disabilities / Q000150:complications* / Q000453:epidemiology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012307:Risk Factors; D012868:Skin Abnormalities; D013577:Syndrome