title: Johanson-blizzard syndrome.
abstract: We present clinical features and genetic diagnosis in an Indian infant diagnosed with Johanson- Blizzard syndrome. This is a rare, autosomal recessive genetic condition with multi-system involvement and a characteristic facies. Molecular genetic testing is important to confirm the clinical diagnosis and offer prenatal diagnosis in future pregnancies.
authors.affiliation: Department of Genetic Medicine, Deenanath Mangeshkar Hospital and Research Center, Erandawane, Pune, India. koumudig@rediffmail.com
authors.forename: Koumudi
authors.initials: K
authors.lastname: Godbole
authors.forename: Sukalo
authors.initials: S
authors.lastname: Maja
authors.forename: Hiremath
authors.initials: H
authors.lastname: Leena
authors.forename: Zenker
authors.initials: Z
authors.lastname: Martin
mesh_terms: D001006:Anus, Imperforate / Q000175:diagnosis* / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis* / Q000235:genetics; D007194:India; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D009666:Nose / Q000002:abnormalities*; D010182:Pancreatic Diseases / Q000175:diagnosis* / Q000235:genetics