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

Fragile X syndrome

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

Pierre-Robin sequence

Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.

Total: 1

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PMID (PMCID)
25580604	MALE
	Management of obstructive sleep apnea in a developmentally delayed pediatric patient with aggressive behavior and Pierre Robin sequence.
	Skinner HJ, Walther RB, Dolwick MF, Berry RB, Wagner MH. J Clin Sleep Med. 2015;11(2):181-3.
	This is a case of a 15-year-old nonverbal, developmentally delayed boy with history of Fragile X syndrome (FXS), autistic spectrum disorder, Pierre Robin sequence (PRS), subglottic stenosis, and ongoing obstructive sleep apnea (OSA), who required aggressive surgical intervention.