- Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features
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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... -
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- Atypical Dermatoglyphics in Trisomy 18 (Edwards Syndrome)
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Shim DT, Kim YK, Whang KU, Park YL, Jung H
- KMID: 2361731
- Ann Dermatol.
- 1993 Jan;5(1):30-33.
- doi: 10.5021/ad.1993.5.1.30
A 19 month old girl with trisomy 18 is described. She showed loose folds of skin about the neck, a prominent occiput, a simian crease on both palms, epicanthal folds,... -
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- Intranasal teeth in a 3-year-old child with Smith-Lemli-Opitz syndrome
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Shim SH
- KMID: 2470516
- Oral Biol Res.
- 2019 Dec;43(4):361-364.
- doi: 10.21851/obr.43.04.201912.361
Smith–Lemli–Opitz syndrome (SLOS) is a rare autosomal recessive genetic disorder accompanied with congenital anomalies and mental impairment. Clefts of the hard and/or soft palate, small tongue, broad alveolar ridges, and... -
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- Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant
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Jung YJ
- KMID: 2415848
- Kosin Med J.
- 2018 Jun;33(1):117-121.
- doi: 10.7180/kmj.2018.33.1.117
A premature infant with gestational age 36âºâ´ weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and... -
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- Hereditary Sclerosing Poikiloderma
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Lee HJ, Shin DH, Choi JS, Kim KH
- KMID: 1120165
- J Korean Med Sci.
- 2012 Feb;27(2):225-227.
- doi: 10.3346/jkms.2012.27.2.225
Hereditary sclerosing poikiloderma (HSP) is a very rare disease. The clinical features are principally widespread poikiloderma and linear hyperkeratotic and sclerotic bands. We report an 18-yr-old male who presented reticular... -
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- A Case of Trisomy 9 Mosaicism Syndrome
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Na YJ, Lee JH, Park MS
- KMID: 2355576
- Perinatology.
- 2016 Sep;27(3):174-177.
- doi: 10.14734/PN.2016.27.3.174
Trisomy 9 mosaicism syndrome was first reported by Haslam in 1973 and has been rarely reported. The severity of malformations depends on the percentage of trisomic cells. This syndrome can... -
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- Ehlers-Danlos Syndrome in a Newborn Mistaken for Edwards Syndrome
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Kim SK, An JW, Lee SH, Oh YK
- KMID: 2409124
- Perinatology.
- 2017 Dec;28(4):156-161.
- doi: 10.14734/PN.2017.28.4.156
The Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder with special characteristics such as joint hypermobility, tissue fragility and skin abnormalities. The recently classification divide six subtypes. Dermatosparaxis types... -
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- Rehabilitation Treatment of a Child Diagnosed With Duplication of 1q42-q44: A Case Report
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Kim SW, Kim J, Jeon HR, Park MJ, Kim Y
- KMID: 2382927
- Ann Rehabil Med.
- 2016 Oct;40(5):938-942.
- doi: 10.5535/arm.2016.40.5.938
Trisomy 1 is a rare chromosomal anomaly and has never been reported in Korea. Clinical features of trisomy 1 include macrocephaly, prominent forehead, flat nasal bridge, low set ears, and... -
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- Prenatal ultrasonography of craniofacial abnormalities
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Mak AS, Leung KY
- KMID: 2433288
- Ultrasonography.
- 2019 Jan;38(1):13-24.
- doi: 10.14366/usg.18031
Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the... -
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- Three Cases of Pierre Robin Sequence with Upper Airway Obstruction Relieved by Nasopharyngeal Airway Insertion
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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... -
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- Dysphasia due to Oral Anomaly
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Hong JH, Joung YJ, Ahn KM
- KMID: 2406775
- J Korean Dysphagia Soc.
- 2018 Jan;8(1):1-7.
- doi: 10.0000/jkdps.2018.8.1.1
Dysphasia related to oral anomaly is a common situation in oral and maxillofacial surgery. The etiology of oral anomalies causing dysphasia can be divided into congenital and acquired disease. Congenital... -
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- Discordant Congenital Cytomegalovirus Infection in Twins
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Kim YS, Kang JM, Lee JH, Chang YS, Park WS, Kim YJ
- KMID: 2390884
- Pediatr Infect Vaccine.
- 2017 Apr;24(1):65-70.
- doi: 10.14776/piv.2017.24.1.65
Cytomegalovirus (CMV) infection is one of the most common congenital infections. The first case of discordant congenital CMV infection in twins occurred in Korea. A 31-year-old woman became pregnant with... -
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- 1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction
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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,... -
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- A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis
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Kim ST, Kim H, Kim HH, Lee NH, Han Y, Sung SI, Chang YS, Park WS
- KMID: 2443254
- Yonsei Med J.
- 2019 May;60(5):484-486.
- doi: 10.3349/ymj.2019.60.5.484
Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it... -
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- Concurrent SHORT syndrome and 3q duplication syndrome
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Boaz AM, Grasso SA, DeRogatis , Beesley EN
- KMID: 2451621
- J Genet Med.
- 2019 Jun;16(1):15-18.
- doi: 10.5734/JGM.2019.16.1.15
SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome:... -
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- Longitudinal management of recurrent temporomandibular joint ankylosis from infancy to adulthood in perspective of surgical and orthodontic treatment
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Lim SW, Choi JY, Baek SH
- KMID: 2464204
- Korean J Orthod.
- 2019 Nov;49(6):413-426.
- doi: 10.4041/kjod.2019.49.6.413
This study was performed to describe the longitudinal management of recurrent temporomandibular joint (TMJ) ankylosis from infancy to adulthood in perspective of surgical and orthodontic treatment. A 2-year-old girl was... -
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