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Paediatric anaesthesia · Jan 2003
Case ReportsPerioperative care of the child with the Johanson-Blizzard syndrome.
- Christopher R Fichter, Garry A Johnson, Stephen R Braddock, and Joseph D Tobias.
- Department of Child Health, The University of Missouri, Columbia, MO 65212, USA.
- Paediatr Anaesth. 2003 Jan 1; 13 (1): 72-5.
AbstractThe 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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