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.
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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)
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Chemical References |
- Anesthetics, Inhalation
- Methyl Ethers
- Sevoflurane
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Topics |
- Abnormalities, Multiple
(surgery)
- Anesthesia, Inhalation
- Anesthetics, Inhalation
- Child, Preschool
- Dwarfism
(complications)
- Female
- Genes, Recessive
- Humans
- Methyl Ethers
- Nose
(abnormalities)
- Sevoflurane
- Syndrome
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