Perioperative care of the child with the Johanson-Blizzard syndrome.

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.

• Authors: Christopher R Fichter, Garry A Johnson, Stephen R Braddock, Joseph D Tobias
• Journal: Paediatric anaesthesia (Paediatr Anaesth) Vol. 13 Issue 1 Pg. 72-5 (Jan 2003) ISSN: 1155-5645 [Print] France
• PMID: 12535044 (Publication Type: Case Reports, Journal Article)

Chemical References

• Anesthetics, Inhalation
• Methyl Ethers
• Sevoflurane

Topics

• Abnormalities, Multiple (surgery)
• Anesthesia, Inhalation
• Anesthetics, Inhalation
• Child, Preschool
• Dwarfism (complications)
• Female
• Genes, Recessive
• Humans
• Methyl Ethers
• Nose (abnormalities)
• Sevoflurane
• Syndrome