title: Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.
abstract: Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum.
authors.affiliation: Ankara Pediatric Health and Diseases Hematology Oncology Education and Research Hospital, Department of Medical Genetics, Dışkapı, Altındağ, 06110 Ankara, Turkey. Electronic address: drhaticekocak@hotmail.com.
authors.forename: Hatice Koçak
authors.initials: HK
authors.lastname: Eker
authors.affiliation: Ankara Pediatric Health and Diseases Hematology Oncology Education and Research Hospital, Department of Radiology, Ankara, Turkey.
authors.forename: Betül Emine
authors.initials: BE
authors.lastname: Derinkuyu
authors.affiliation: Ankara Pediatric Health and Diseases Hematology Oncology Education and Research Hospital, Department of Neonatology, Ankara, Turkey.
authors.forename: Sevim
authors.initials: S
authors.lastname: Ünal
authors.affiliation: Department of Medical Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School, Paris, France; INSERM U676, Paris, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Masliah-Planchon
authors.affiliation: Department of Medical Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School, Paris, France; INSERM U676, Paris, France.
authors.forename: Séverine
authors.initials: S
authors.lastname: Drunat
authors.affiliation: Department of Medical Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School, Paris, France; INSERM U676, Paris, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000199:Actins / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D054220:Malformations of Cortical Development / Q000175:diagnosis* / Q000235:genetics; D020125:Mutation, Missense
chemical_list: D000199:Actins
keywords: ACTB; Baraitser–Winter syndrome; Cerebro-fronto-facial syndrome; Polymicrogyria