search www.ncbi.nlm.nih.gov.

Papers Published

1. CR Fichter, GA Johnson, SR Braddock, JD Tobias, Perioperative care of the child with the Johanson-Blizzard syndrome., Paediatric anaesthesia, vol. 13 no. 1 (January, 2003), pp. 72-5 .
   (last updated on 2010/04/30)

   Abstract:
   The Johanson-Blizzard Syndrome (JBS) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, micrognathia, thin lips, absent permanent dentition and microcephaly. In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, hypopituitarism, mental retardation, sensorineural hearing loss and vesico-ureteral reflux. A case is presented and the potential anaesthetic implications of this syndrome are discussed.

   Keywords:
   Abnormalities, Multiple • Anesthesia, Inhalation* • Anesthetics, Inhalation • Child, Preschool • Dwarfism • Female • Genes, Recessive • Humans • Methyl Ethers • Nose • Syndrome • abnormalities • complications • surgery*