title: Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.
abstract: Craniofrontonasal syndrome (CFNS; OMIM # 304110) is a rare X-linked disorder with greater severity in heterozygous females than in hemizygous males. CFNS is characterized by coronal craniosynostosis, frontal bossing, severe hypertelorism, craniofacial asymmetry, downslant palpebral fissure, broad nasal root, bifid nasal tip, grooved fingernails, curly wiry hair, and abnormalities of the thoracic skeleton. There are very few cases describing association of CFNS with heart defects. We discuss a very rare feature: atrial septal defect in a molecularly confirmed case of CFNS.
authors.forename: Manisha
authors.initials: M
authors.lastname: Goyal
authors.forename: Gaurav
authors.initials: G
authors.lastname: Pradhan
authors.forename: Ilse
authors.initials: I
authors.lastname: Wieland
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
mesh_terms: D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D036387:Ephrin-B1 / Q000235:genetics*; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000000981:diagnostic imaging / Q000235:genetics*; D007223:Infant; D009154:Mutation
chemical_list: C484288:EFNB1 protein, human; D036387:Ephrin-B1
keywords: atrial septal defect; craniosynostosis; hypertelorism