title: Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.
abstract: 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.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Masuno
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: N
authors.initials: N
authors.lastname: Aida
authors.forename: G
authors.initials: G
authors.lastname: Nishimura
authors.forename: J
authors.initials: J
authors.lastname: Kimura
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
mesh_terms: 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