Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: a possible third case.
We describe a male patient with holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism. This rare association has previously been reported in two patients. We present a third case and propose a new association representing a distinguishable entity.
Imaizumi
K
K
Division of Medical Genetics, Kanagawa Children's Medical Center, Japan.
Ishii
T
T
Masuno
M
M
Kuroki
Y
Y
D000015:Abnormalities, Multiple; D002971:Cleft Lip / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology*; D016142:Holoprosencephaly / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D006972:Hypertelorism / Q000473:pathology*; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D008297:Male; D011859:Radiography