title: [Report of a case with Johanson-Blizzard syndrome and literatures review].
abstract: OBJECTIVE
  To study the clinical characteristics and diagnosis of the Johanson-Blizzard syndrome.
  
  
  METHODS
  The clinical characteristics and diagnosing procedure of 1 case with Johanson-Blizzard syndrome were analyzed, and genetic analysis was made in diagnosing procedure, and 28 cases of Johanson-Blizzard syndrome with detailed clinical data were reviewed and analyzed.
  
  
  RESULTS
  A one year and nine months old girl, who was initially admitted to the hospital because of fatty diarrhea and increased frequency of defecation. Imperforate anus, and aplastic alae nasi was noticed after birth. On physical examination, short stature, mental retardation, tooth abnormalities and scalp defects were observed. Fat globule was found by routine stool test. Serum biochemistry showed an exocrine and endocrine pancreatic insufficiency, CT scan of the abdomen demonstrated fatty replacement of the pancreas, UBR1 gene analysis showed heterozygous for two missense changes. In all 29 cases, exocrine pancreatic insufficiency (72.4%) and hypoplasia of the alae nasi (93%) were the most common clinical manifestations, and sensorineural hearing loss (59%), scalp defects (69%) and hair thinning or upsweep of the hair (44.8%), hypothyroidism (44.8%), absence of permanent teeth (44.8%) and imperforate anus (21%) were also very common, but did not include consanguineous marriage of parents (10.3%).
  
  
  CONCLUSIONS
  Johanson-Blizzard syndrome is a rare autosomal recessive multisystem disorder, it is characterized by the association of congenital exocrine pancreatic insufficiency and hypoplasia or aplasia of the nasal wings, and can be diagnosed by clinical characteristics and UBR1 gene analysis.
authors.affiliation: Department of Digestive Diseases, Nanjing Children's Hospital, Nanjing Medical University, Nanjing 210008, China.
authors.forename: Zhi-Feng
authors.initials: ZF
authors.lastname: Liu
authors.forename: Zhi-Hua
authors.initials: ZH
authors.lastname: Zhang
authors.forename: Mei
authors.initials: M
authors.lastname: Li
authors.forename: Yu
authors.initials: Y
authors.lastname: Jin
authors.forename: Min
authors.initials: M
authors.lastname: Lian
authors.forename: Wen-Wei
authors.initials: WW
authors.lastname: Tang
mesh_terms: D001006:Anus, Imperforate; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D006130:Growth Disorders; D006319:Hearing Loss, Sensorineural; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D007223:Infant; D008607:Intellectual Disability; D009666:Nose / Q000002:abnormalities / Q000473:pathology; D010182:Pancreatic Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: C113474:UBR1 protein, human; D044767:Ubiquitin-Protein Ligases