title: Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.
abstract: We report a girl with septo-optic dysplasia in association with subglottic stenosis, sagittal craniosynostosis, osteoporosis and dental anomalies. It is uncommon for patients with septo-optic dysplasia to have multiple, extra-cranial malformations. A number of differential diagnoses were considered in this case, including Cole-Carpenter syndrome, Pfeiffer syndrome and osteoglophonic dwarfism. However, none can account for all the abnormalities seen. We therefore believe that this is a previously unreported, but highly distinctive, phenotype.
authors.affiliation: North West Thames Regional Genetics Service, Kennedy-Galton Centre, Level 8 V, North West London Hospitals NHS Trust, Watford Road, Harrow, Middlesex HAl 3UJ, UK.
authors.forename: Emma L
authors.initials: EL
authors.lastname: Wakeling
authors.forename: Mehul T
authors.initials: MT
authors.lastname: Dattani
authors.forename: A
authors.initials: A
authors.lastname: Bloch-Zupan
authors.forename: Robin M
authors.initials: RM
authors.lastname: Winter
authors.forename: Susan E
authors.initials: SE
authors.lastname: Holder
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010024:Osteoporosis / Q000503:physiopathology*; D025962:Septo-Optic Dysplasia / Q000503:physiopathology*; D014135:Tracheal Stenosis / Q000503:physiopathology*