Premium
Perioperative care of the child with the Johanson–Blizzard syndrome
Author(s) -
Fichter Christopher R.,
Johnson Garry A.,
Braddock Stephen R.,
Tobias Joseph D.
Publication year - 2003
Publication title -
pediatric anesthesia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.704
H-Index - 82
eISSN - 1460-9592
pISSN - 1155-5645
DOI - 10.1046/j.1460-9592.2003.00957.x
Subject(s) - medicine , microcephaly , forehead , scalp , hypoplasia , ectodermal dysplasia , macroglossia , polydactyly , anatomy , pediatrics , dermatology , pathology , tongue
Summary 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.