- Hypertrophic osteopathy in a cat with cardiac interventricular septal defect
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de Sousa F, Bianchi MV, Taunde PA, Bandinelli MB, Fett RR, Driemeier , Pavarini S
- KMID: 2464098
- J Vet Sci.
- 2019 Sep;20(5):e52.
- doi: 10.4142/jvs.2019.20.e52
A 3-year-old mixed-breed female cat was diagnosed with a ventricular septal defect of the heart through an echocardiogram. After a 9-month treatment, progressive and diffuse hard thickening of all limbs... -
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- Incomplete Form of Shone Complex in an Adult Congenital Heart Disease Patient
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Shih BC, Lim JH, Min J, Kim ER, Kwak JG, Kim WH
- KMID: 2447609
- Korean J Thorac Cardiovasc Surg.
- 2019 Apr;52(2):100-104.
- doi: 10.5090/kjtcs.2019.52.2.100
Shone complex is a rare congenital disorder that involves 4 obstructive lesions of the left heart, as follows: parachute mitral valve, supravalvular mitral ring, subaortic stenosis, and coarctation of the... -
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- Congenital toxoplasmosis among Iranian neonates: a systematic review and meta-analysis
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Sarvi S, Nayeri Chegeni T, Sharif M, Montazeri , Hosseini S, Amouei A, Hosseininejad Z, Anvari D, Saberi R, Gohardehi , Daryani A
- KMID: 2469424
- Epidemiol Health.
- 2019;41:e2019021.
- doi: 10.4178/epih.e2019021
Toxoplasmosis is a serious zoonotic disease that can lead to abortion and congenital disorders and has a widespread global distribution in humans and animals. The objective of this review was... -
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- Considerations for dental treatment of Williams syndrome patients
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Shin J, Lee J
- KMID: 2430548
- J Korean Acad Oral Health.
- 2018 Dec;42(4):238-241.
- doi: 10.11149/jkaoh.2018.42.4.238
Williams syndrome is a rare congenital disorder with various physical abnormalities and characterized by facial, oral, and dental features. Individuals with Williams syndrome typically have eating disorders in the early... -
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- Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review
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Lee CY, Lee NM, Yi DY, Yun SW, Chae SA, Lim IS, Kim GJ
- KMID: 2430223
- Perinatology.
- 2018 Dec;29(4):185-188.
- doi: 10.14734/PN.2018.29.4.185
Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis,... -
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- Contouring of zygomatic soft tissue using bilateral free groin flaps in a Treacher Collins syndrome patient
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Heo JW, Jin US
- KMID: 2417797
- Arch Craniofac Surg.
- 2018 Jun;19(2):131-134.
- doi: 10.7181/acfs.2018.01739
Treacher Collins syndrome is a congenital disorder that is characterized with a wide range of cranio-facial deformities. Zygomatic hypoplasia or aplasia is one of the key features, and surgical reconstruction... -
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- Laparoscopic hepatectomy for the treatment of Caroli's disease: a case report
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Chen CB, Hu WD, Zhao WW, Gu YY, Hou HW, Pan Z
- KMID: 2405330
- Ann Surg Treat Res.
- 2018 Mar;94(3):162-165.
- doi: 10.4174/astr.2018.94.3.162
Caroli disease is a rare congenital disorder characterized by nonobstructive dilatation of intrahepatic ducts. In cases with symptomatic intrahepatic manifestations, treatment should correspond to the type with hepatic resection for... -
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- Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome
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Jung JE, Hur JH, Jung MK, Kwon A, Chae HW, Kim DH, Kim HS
- KMID: 2383908
- Ann Pediatr Endocrinol Metab.
- 2017 Jun;22(2):125-128.
- doi: 10.6065/apem.2017.22.2.125
Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple... -
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- Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodysplasia Punctata
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Doo JW, Jang JH, Cho EH, Kim JK, Cho SC
- KMID: 2350289
- Neonatal Med.
- 2016 Aug;23(3):178-182.
- doi: 10.5385/nm.2016.23.3.178
X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. It is a rare congenital disorder of punctate calcifications... -
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- A Case of Cytomegalovirus Infection in a Neonate with Osteopetrosis
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Lee SH, Shin JH, Choi BM, Kim YK
- KMID: 2163227
- Pediatr Infect Vaccine.
- 2016 Apr;23(1):72-76.
- doi: 10.14776/piv.2016.23.1.72
Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause... -
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- Tracheal Agenesis Reconstruction with External Esophageal Stenting: Postoperative Results and Complications
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Park BJ, Kim MS, Yang JH, Jun TG
- KMID: 2382307
- Korean J Thorac Cardiovasc Surg.
- 2015 Dec;48(6):439-442.
- doi: 10.5090/kjtcs.2015.48.6.439
Tracheal agenesis is an extremely rare and typically lethal congenital disorder. Approximately 150 cases have been described since 1900, and very few cases of survival have been reported. We describe... -
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- A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
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Suh BS, Ko KH, Lee KH, Sung TJ
- KMID: 2130694
- Neonatal Med.
- 2015 Nov;22(4):233-237.
- doi: 10.5385/nm.2015.22.4.233
Wolf-Hirschhorn syndrome is a congenital disorder associated with partial deletion of the short arm of chromosome 4. The majority of patients showed characteristic facial anomalies - so called "Greek-Helmet" appearances... -
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- Dental treatment of a patient with long QT syndrome under moderate sedation with target-controlled infusion of propofol
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Kim KJ, Hyun HK, Kim YJ, Kim JW, Shin TJ
- KMID: 2310727
- J Dent Anesth Pain Med.
- 2015 Sep;15(3):161-165.
Long QT syndrome (LQTs) is a rare congenital disorder of the heart's electrical activity. Patients with LQTs are at increased risk of developing fatal ventricular arrhythmias. Elevated levels of sympathetic... -
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- Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient
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Lu H, Zeng B, Yu D, Jing X, Hu B, Zhao W, Wang Y
- KMID: 2045027
- Imaging Sci Dent.
- 2015 Sep;45(3):187-192.
- doi: 10.5624/isd.2015.45.3.187
Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription... -
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- Bipartite Medial Cuneiform Combined with Accessory Navicular: A Case Report
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Lee TH, Nam IH, Moon GH, Lee YH, Ahn GY, Lee YH
- KMID: 1958703
- J Korean Foot Ankle Soc.
- 2015 Mar;19(1):32-34.
- doi: 10.14193/jkfas.2015.19.1.32
Accessory navicular is a congenital anomaly appearing in the secondary ossification center on the tuberosity of the navicular that may cause flatfoot. Bipartite medial cuneiform is another rare congenital anomaly... -
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- Clinical Characteristics Associated With Aspiration or Penetration in Children With Swallowing Problem
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Bae SO, Lee GP, Seo HG, Oh BM, Han TR
- KMID: 2267082
- Ann Rehabil Med.
- 2014 Dec;38(6):734-741.
- doi: 10.5535/arm.2014.38.6.734
OBJECTIVE: To evaluate demographic characteristics of children with suspected dysphagia who underwent videofluoroscopic swallowing study (VFSS) and to identify factors related to penetration or aspiration. METHODS: Medical records of 352 children... -
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- A Case of Systematized Inflammatory Linear Verrucous Epidermal Nevus with Mandibular Hypoplasia
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Kim HS, Ha JM, Cho EB, Park EJ, Kim KH, Kim KJ
- KMID: 1734195
- Korean J Dermatol.
- 2014 Nov;52(11):817-820.
Inflammatory linear verrucous epidermal nevus (ILVEN) is an uncommon variant of verrucous epidermal nevus, clinically characterized by erythematous and hyperkeratotic verrucous papules with a typical linear arrangement. Most reported cases... -
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- Eighteen Year Follow-Up Results of Accessory Lower Limb Disarticulation and Pelvic Bone Reconstruction for Monocephalus Tripus Tribrachius
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Kim TS, Shin TY, Kim SJ
- KMID: 2185196
- J Korean Orthop Assoc.
- 2014 Aug;49(4):321-325.
- doi: 10.4055/jkoa.2014.49.4.321
Monocephalus tripus tribrachius, a type of conjoined twins with one head and three upper and lower extremities, is a rare congenital disorder. To date, no long-term follow-up results of surgical... -
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- A Case of Kommerell's Diverticulum Initially Detected by Transesophageal Echocardiography
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Lee SJ, Lee SH, Kim JH, Lee H, Lee DJ, Kim JH, Son JW, Son JW, Hong GR
- KMID: 1428375
- J Cardiovasc Ultrasound.
- 2013 Mar;21(1):30-32.
- doi: 10.4250/jcu.2013.21.1.30
Kommerell's diverticulum is a rare congenital disorder characterized by typical right sided aortic arch and aberrant left subclavian artery which are usually detected by accident in asymptomatic patients. However, some... -
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- Interstitial Lung Disease in a Patient with Dyskeratosis Congenita
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Kim HJ, Kim KJ, Lee KH, Shin KC, Chung JH, Hyun MS, Kim KH
- KMID: 2320253
- Tuberc Respir Dis.
- 2013 Feb;74(2):70-73.
Dyskeratosis congenita is a rare congenital disorder characterized by a triad of reticular pigmentation of the skin, dystrophic nails, and leukoplakia of the mucous membrane. Sometimes it is associated with... -
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