Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Scoliosis

The presence of an abnormal lateral curvature of the spine.

Total: 10

(per page)

PMID (PMCID)
30899490	OTHER
	How reconstructive surgery combined with physiotherapy for a painful nontraumatic patellar dislocation enabled a woman with Rett syndrome to become pain free and remain physically active: A case report.
	Svedberg L, Herngren B, Michno P. Clin Case Rep. 2019;7(3):542-545.
	The effects of orthopedic measures, with the exception of scoliosis surgery, are rarely described in individuals with Rett syndrome.
30186973 (6115371)	OTHER
	Use of sugammadex in Rett syndrome: A case report.
	Kupeli I, Tepe E, Kuyrukluyldz U. J Dent Anesth Pain Med. 2018;18(4):261-265.
	Rett syndrome (RS) is a neurodevelopmental disorder characterized by loss of cognitive, motor, and social skills, epilepsy, autistic behavior, abnormal airway patterns, gastroesophageal reflux, nutritional problems, and severe scoliosis.
25714420	FEMALE	Child
	A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
	Romaniello R, Saettini F, Panzeri E, Arrigoni F, Bassi MT, Borgatti R. Neuroreport. 2015;26(5):254-7.
	This study reports on a 9-year-old girl who developed West syndrome and showed clinical features fulfilling the main revised diagnostic criteria for typical Rett syndrome (hand washing, severe cognitive impairment with absence of language, ataxic gait, progressive scoliosis and autistic features).
23724160	OTHER
	Perioperative management of a patient with Rett syndrome.
	Kako H, Martin DP, Cartabuke R, Beebe A, Klamar J, Tobias JD. Int J Clin Exp Med. 2013;6(5):393-403.
	Given the invariable association of this degenerative disorder with orthopedic deformities including scoliosis, patients with Rett syndrome may present for anesthetic care during various surgical procedures.
23040654	FEMALE
	[Rett syndrome: double epidural catheter for the control of postoperative pain after scoliosis surgery. A literature review].
	Freire Vila E, de la Iglesia Lopez A, Juncal Diaz JL. Rev Esp Anestesiol Reanim. 2013;60(3):161-6.
	[Rett syndrome: double epidural catheter for the control of postoperative pain after scoliosis surgery.
20035294	FEMALE
	Computer navigation-assisted spinal fusion with segmental pedicle screw instrumentation for scoliosis with Rett syndrome: a case report.
	Tanaka M, Nakanishi K, Sugimoto Y, Misawa H, Takigawa T, Nishida K, Ozaki T. Acta Med Okayama. 2009;63(6):373-7.
	Computer navigation-assisted spinal fusion with segmental pedicle screw instrumentation for scoliosis with Rett syndrome: a case report.
20035294	FEMALE
	Computer navigation-assisted spinal fusion with segmental pedicle screw instrumentation for scoliosis with Rett syndrome: a case report.
	Tanaka M, Nakanishi K, Sugimoto Y, Misawa H, Takigawa T, Nishida K, Ozaki T. Acta Med Okayama. 2009;63(6):373-7.
	Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects females.
17621526	FEMALE	Child
	How to prevent small stature in Rett syndrome-associated collapsing spine syndrome.
	Thorey F, Jager M, Seller K, Wild A, Adam RA, Krauspe R. J Child Neurol. 2007;22(4):443-6.
	Severe scoliosis in Rett syndrome is an important orthopedic, neurologic, and pediatric problem.
15798886 (5936600)	FEMALE	Child
	Managing scoliosis in a young child with Rett syndrome: a case study.
	Lotan M, Merrick J, Carmeli E. ScientificWorldJournal. 2005;5:264-73.
	So far, only surgical intervention has succeeded in reversing the development of scoliosis in Rett syndrome.
10051171	FEMALE	Child
	Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).
	Gustavsson P, Kimber E, Wahlstrom J, Anneren G. Am J Med Genet. 1999;82(4):348-51.
	The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were severe mental retardation, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years.