Perioperative care of the child with the Johanson-Blizzard syndrome.
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.
Fichter
Christopher R
CR
Department of Child Health, The University of Missouri, Columbia, MO 65212, USA.
Johnson
Garry A
GA
Braddock
Stephen R
SR
Tobias
Joseph D
JD
D000015:Abnormalities, Multiple / Q000601:surgery*; D000769:Anesthesia, Inhalation; D018685:Anesthetics, Inhalation; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008738:Methyl Ethers; D009666:Nose / Q000002:abnormalities; D000077149:Sevoflurane; D013577:Syndrome
D018685:Anesthetics, Inhalation; D008738:Methyl Ethers; D000077149:Sevoflurane