TY - JOUR
T1 - The microcephaly-capillary malformation syndrome
AU - Mirzaa, Ghayda M.
AU - Paciorkowski, Alex R.
AU - Smyser, Christopher D.
AU - Willing, Marcia C.
AU - Lind, Anne C.
AU - Dobyns, William B.
PY - 2011/9
Y1 - 2011/9
N2 - We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301-306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome.
AB - We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301-306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome.
KW - Capillary malformations
KW - Infantile spasms
KW - Microcephaly with simplified gyri
KW - Optic nerve hypoplasia
UR - http://www.scopus.com/inward/record.url?scp=84860389027&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.34118
DO - 10.1002/ajmg.a.34118
M3 - Article
C2 - 21815250
AN - SCOPUS:84860389027
SN - 1552-4825
VL - 155
SP - 2080
EP - 2087
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -