The prevalence of PRS is estimated to be 1 in 8,500-14,000 births in the general population. The Pierre Robin sequence (PRS) is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Keywords: Small supernumerary marker chromosome, Pierre robin sequence, Array CGH, FISH, 16p13.3 Further studies of similar cases are needed to support our findings. The duplicated CREBBP gene within chromosome 16p13.3 is associated with incomplete penetrance regarding the mandible development anomalies. To our best knowledge, this was the first case diagnosed with non-syndromic PRS associated with a complex sSMC, which involved a 3.8 Mb gain in the 14q 11.2 region and an 11.8 Mb gain in the 16p13.13-pter region.Ĭonclusions: We suggest that the duplicated chromosome segment 16p13.3 possibly may be responsible for the phenotypes of our case and also may be a candidate locus of non-syndromic PRS. Clinical manifestations included micrognathia, U-type cleft palate, bilateral congenital ptosis, upslanted and small eyes, bilateral inguinal hernias, umbilical hernia, bilateral clubfoot, and short fingers and toes. The complex marker chromosome, der(14)t(14 16)(q11.2 p13.13), was initially identified by routine chromosomal analysis and subsequently characterized by array-comparative genomic hybridization (array CGH) and confirmed by fluorescence in situ hybridization (FISH). Multiple etiologies including genetic defects have been documented in patients with syndromic, non-syndromic, and isolated PRS.Ĭase presentation: We report a 4-year-old boy with a complex small supernumerary marker chromosome (sSMC) who had non-syndromic Pierre Robin sequence (PRS). It is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Mingran Sun, Han Zhang, Guiying Li2, Xianfu Wang1, Xianglan Lu1, Andrea Sternenberger1, Carrie Guy1 1 1/1 1 ^ 1 ^ Wenfu Li, Jiyun Lee, Lei Zheng, and Shibo Liīackground: Pierre Robin sequence (PRS) is a condition present at birth. If neither of these procedures is successful or your child has disease below the base of the tongue, she may need a tracheostomy.16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance This procedure improves the airway as new bone forms in the gap. By activating the device, the jaw is gradually brought forward carrying the tongue with it. In distraction osteogenesis, an internal or external device is applied to the mandible and a cut is made posteriorly. If successful, this is released in three to six months. In tongue-lip adhesion, the undersurface of the tip of the tongue is sutured to the inside of the lower lip to hold it in a more forward position. Tongue-lip adhesion and mandibular distraction osteogenesis have both been performed with favorable outcomes. Surgical intervention includes tongue-lip adhesion, mandibular distraction or tracheostomy. In patients who are more severely affected or have abnormal sleep study results, surgical alternatives can be considered. Care may also include the addition of a nasopharyngeal airway until your child matures neurologically and has grown enough to bring the tongue into a more favorable position. In more mild cases, management may consist of positioning your child in a side or face-down position to allow the tongue to fall forward and relieve the obstruction.
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