- 1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction
-
Kim YH, Yang JS, Lee YJ, Bae MH, Park KH, Lee DH, Shin KH, Kim SC
- KMID: 2435971
- J Genet Med.
- 2018 Jun;15(1):34-37.
- doi: 10.5734/JGM.2018.15.1.34
A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract,... -
- CITED
-
- Close
- SHARE
-
- Close
- Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features
-
Kim JJ, Choi DS, Jang I, Cha BK, Park IW
- KMID: 2466556
- Imaging Sci Dent.
- 2019 Dec;49(4):323-329.
- doi: 10.5624/isd.2019.49.4.323
Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and airway obstruction. PRS does not have a single pathogenesis, but rather is associated with multiple syndromes. This... -
- CITED
-
- Close
- SHARE
-
- Close
- Three Cases of Pierre Robin Sequence with Upper Airway Obstruction Relieved by Nasopharyngeal Airway Insertion
-
Oh MS, Park YM, Jung YH, Choi CW, Kim BI, Kwon JW
- KMID: 2457187
- Neonatal Med.
- 2019 Aug;26(3):179-183.
- doi: 10.5385/nm.2019.26.3.179
Pierre Robin sequence (PRS), also called Robin sequence, is a congenital anomaly characterized by a triad of micrognathia, glossoptosis, and upper airway obstruction. Infants with PRS can present with varying... -
- CITED
-
- Close
- SHARE
-
- Close
