title: Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome?
abstract: Congenital malformations involving the face, oral cavity, and digits are the main findings in the oro-facio-digital (OFD) syndromes. Various eye anomalies and central nervous system involvement have also been reported in this condition. Here we report on a Brazilian boy with features belonging to the clinical spectrum of the OFD syndromes. He also had additional findings of periventricular nodular heterotopia (PVNH), asymmetric limb involvement, and microphthalmia. This unusual pattern of anomalies has not been reported previously and appears to be unique.
authors.affiliation: Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.
authors.forename: Carlos H B C
authors.initials: CHBC
authors.lastname: Castro
authors.forename: Patrícia Z
authors.initials: PZ
authors.lastname: Freitas
authors.forename: Melissa Z
authors.initials: MZ
authors.lastname: Antoneli
authors.forename: Giselda
authors.initials: G
authors.lastname: Santiago
authors.forename: Lucilene A
authors.initials: LA
authors.lastname: Ribeiro
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001938:Brazil; D002552:Cerebral Ventricles / Q000002:abnormalities*; D002648:Child; D002828:Choristoma / Q000000981:diagnostic imaging; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008850:Microphthalmos / Q000473:pathology*; D009474:Neurons; D009958:Orofaciodigital Syndromes / Q000473:pathology*; D011859:Radiography; D013577:Syndrome