Clinical presentation There is wide variability in the clinical presentation, but common features are: low birth weight hypotonia intellectual disability (wide range) delayed skeletal maturation, short stature facial features microcephaly aplastic alae [radiopaedia.org]

Case History A 5-months old female child presented to us with a history of not gaining weight accompanied by diarrhoea since the neonatal period. She also had history of pedal edema over the past two months. [tropicalgastro.com]

Additional specialists will help depending on your child’s needs, addressing hearing loss, developmental delay, and any urogenital or anorectal malformations that are present. [chop.edu]

Usually presents at birth when the nasal hypoplasia is associated with an imperforate anus. Prenatal diagnosis can be done. [accessanesthesiology.mhmedical.com]

We present an Indian infant with this condition. CASE REPORT A 12-day-old female newborn was referred for Genetics consultation for her unusal facies and congenital heart defect. [yumpu.com]

• Malnutrition

  In cases of malnutrition and decreased protein binding an increased clinical effect of protein-bound medications must be expected; therefore, doses must be reduced. [accessanesthesiology.mhmedical.com]

  Although we cannot exclude these possibilities, the fact that the hematologic disease resolved after efficient pancreatic enzyme and vitamin supplementation suggests a major contribution of malnutrition. [wjgnet.com]

• Pathologist

  Pediatricians, surgeons, dental specialists, speech pathologists, specialists who assess and treat disorders of the endocrine glands (endocrinologists), specialists who assess and treat disorder to the gastrointestinal tract (gastroenterologists), cardiologists [rarediseases.org]

• Swelling

  In addition, in some cases, affected males and females may demonstrate abnormal swelling (distention) of and accumulation of urine in the kidneys (hydronephrosis). [rarediseases.org]

• Surgical Procedure

  The surgical procedures performed will depend upon the location and severity of the anatomical abnormalities and their associated symptoms. [rarediseases.org]

• Hypoglycemia

  Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. J Pediatr Endocrinol Metab. 2004; 17 :1141-1144. [ PubMed ] 19. Steinbach WJ, Hintz RL. [wjgnet.com]

Standard Therapies Treatment The treatment of JBS is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Pancreatic Exocrine Insufficiency: Diagnosis and Treatment. PubMed. Available online at http://www.ncbi.nlm.nih.gov/pubmed/21323992. Accessed March 2014. Lohr, J-Matthias, et. al. (Jan. 7, 2013.) [labtestsonline.it]

Contributors: All authors were involved with the treatment of the patient and writing of the manuscript. VS will act as a guarantor of the case report. All authors approved the manuscript. Funding: None; Competing interests: None stated. [yumpu.com]

Discussion The most common complication of JBS is malabsorbtion syndrome due to exocrine pancreatic insufficiency, which may lead to chronic diarrhoea, anaemia, hypoproteinemia, oedema and infection, ultimately causing death. [6 ] There is no definitive treatment [tropicalgastro.com]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. Infants with JBS typically have distinctive craniofacial abnormalities at birth. [rarediseases.org]

The possible etiologic basis for the hearing loss in this syndrome is discussed and the literature is reviewed. [semanticscholar.org]

No definite etiology could be established. This feature has not been described in previous reports of JBS. [wjgnet.com]

Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. J Pediatr. 1994; 125 :406-408. [ PubMed ] 14. Cheung JC, Thomson H, Buncic JR, Héon E, Levin AV. [wjgnet.com]

Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. J Pediatr.1994;125:406-408. Gershoni-Baruch R, Lerner A, et al. [rarediseases.org]

In many cases, vitamin supplements (e.g., fat-soluble vitamins A, D, E, K) may also be prescribed to prevent or treat vitamin deficiencies that may result from malabsorption due to pancreatic insufficiency. [rarediseases.org]