Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.
We report a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital sinus, and mental retardation. Cause and inheritance are unknown.
Masuno
M
M
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Imaizumi
K
K
Aida
N
N
Nishimura
G
G
Kimura
J
J
Kuroki
Y
Y
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008265:Macrostomia / Q000473:pathology; D009666:Nose / Q000002:abnormalities