Anaesthesia and Rubinstein-Taybi syndrome

Perioperative management of a patient of Rubinstein-Taybi syndrome with ovarian cyst for laparotomy

“…[ 5 ] Multisystem involvement like airway, cardiac, musculoskeletal, respiratory, and urogenital system poses challenge to anesthesiologist for managing such cases [ Table 1 ]. [ 1 2 3 4 5 6 7 ]…”

“…The airway management is challenging in such patients in view of craniofacial abnormalities, laryngotracheal abnormalities, obstructive sleep apnea, gastroesophageal reflux disease, increased risk of aspiration, mental retardation (noncooperation), and increased risk of arrhythmias with succinylcholine. [ 2 3 4 7 ] The abnormalities of the head and face include a microcephaly, antimongoloid faces, high-arched palate, widely spaced eyes (hypertelorism), a broad nasal bridge, an abnormally large or “beak-shaped” nose, and an unusually small, hypoplastic lower jaw (micrognathia) with small mouth opening, and bucked upper incisors. [ 2 4 7 ] We also observed a large floppy epiglottis which has not been reported earlier in RTS.…”

“…[ 2 3 4 7 ] The abnormalities of the head and face include a microcephaly, antimongoloid faces, high-arched palate, widely spaced eyes (hypertelorism), a broad nasal bridge, an abnormally large or “beak-shaped” nose, and an unusually small, hypoplastic lower jaw (micrognathia) with small mouth opening, and bucked upper incisors. [ 2 4 7 ] We also observed a large floppy epiglottis which has not been reported earlier in RTS. Aspiration may occur in either awake or sleeping state as well.…”

“…Rubinstein-Taybi syndrome (RTS), alternatively known as the “Broad Thumb and Hallux” syndrome, is a rare autosomal dominant chromosomal disorder, that occurs due to microdeletion of chromosome 16p13. [ 1 2 ] It is characterized by mental retardation, short stature, broad thumbs and toes, psychomotor retardation, delayed bone age, congenital heart disease, recurrent respiratory infections, craniofacial anomalies, breathing and swallowing difficulties, malformations of the kidneys, urogenital system, and skeletal system. [ 3 4 ] All these features can have an impact in the management of anesthesia in a patient of RTS scheduled for surgeries like correction of craniofacial, orthopedic, orthodontic, ophthalmic, or cardiac lesions apart from incidental surgical conditions.…”

Anesthetic Management of an Asian Pediatric Patient With Rubinstein-Taybi Syndrome for Dental Surgery

“…The literature on anesthetic management of RTS patients are mostly single case reports or case series, reflecting the rarity of the disease. Many of the early publications are from Europe [3][4][5], with later publications appearing from South Africa [6], India [7], Middle East [8] and Korea [9]. The worldwide prevalence is estimated to be about 1 in 100,000 to 1,250,004.…”