Literature DB >> 34606568

Anesthetic Management of a Patient With Ring 18 Syndrome.

Midori Maekawa1, Makoto Yasuda1, Haruka Sasaki1, Yasuharu Tachinami1,2, Kentaro Mizuta1.   

Abstract

Ring 18 syndrome or ring chromosome 18 is an extremely rare genetic disorder involving the fusion of the 18th chromosomal ends to form a ring, often with genetic material loss of varying degrees. Although clinical presentation can be extremely variable, characteristic features usually include craniofacial malformations, delayed development, hypotonia, and other skeletal and congenital heart defects. We report the management of a 20-year-old male with ring chromosome 18 who underwent general anesthesia for dental treatment. Clinical manifestations for this patient included intellectual disability, short stature, hypertelorism, flat nasal bridge, micrognathia, a "carp-shaped" mouth, and aortic and pulmonary valve regurgitation. Although mask ventilation and oral intubation were easily performed, nasal intubation was difficult because of rhinostenosis. When providing general anesthesia for a patient with ring chromosome 18, anesthesiologists should evaluate the patient preoperatively for congenital heart defects and prepare for a potential difficult airway.
© 2021 by the American Dental Society of Anesthesiology.

Entities:  

Keywords:  Congenital heart defects; Difficult airway; Rhinostenosis; Ring chromosome 18

Mesh:

Substances:

Year:  2021        PMID: 34606568      PMCID: PMC8500322          DOI: 10.2344/anpr-68-03-01

Source DB:  PubMed          Journal:  Anesth Prog        ISSN: 0003-3006


  3 in total

1.  Ring 18 molecular assessment and clinical consequences.

Authors:  Erika Carter; Patricia Heard; Minire Hasi; Bridgette Soileau; Courtney Sebold; Daniel E Hale; Jannine D Cody
Journal:  Am J Med Genet A       Date:  2014-10-22       Impact factor: 2.802

2.  De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.

Authors:  Adriana Lo-Castro; Nadia El-Malhany; Cinzia Galasso; Alberto Verrotti; Anna Maria Nardone; Diana Postorivo; Cristina Palmieri; Paolo Curatolo
Journal:  Eur J Med Genet       Date:  2011-02-17       Impact factor: 2.708

3.  Familial deletion 18p syndrome: case report.

Authors:  Bruno Maranda; Nicole Lemieux; Emmanuelle Lemyre
Journal:  BMC Med Genet       Date:  2006-07-14       Impact factor: 2.103

  3 in total

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