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The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism

Cho JY, Lee TK, Kim YM, Lim HH

The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual...
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Use of stem cells in bone regeneration in cleft palate patients: review and recommendations

Amiri MA, Lavaee F, Danesteh H

This study was conducted to review the efficacy of different sources of stem cells in bone regeneration of cleft palate patients. The majority of previous studies focused on the transplantation...
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Late presenting bilateral squamosal synostosis

Diab J, Anderson P, Moore MH

Premature fusion of one or other of the minor sutures can subtly influence the shape of the human skull. Although infrequently reported or not clinically recognized, it can such contribute to...
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Image-guided navigation surgery for bilateral choanal atresia with a Tessier number 3 facial cleft in an adult

Sung JY, Cho KS, Bae YC, Bae SH

The coexistence of craniofacial cleft and bilateral choanal atresia has only been reported in three cases in the literature, and only one of those cases involved a Tessier number 3...
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Oblique transnasal wiring canthopexy via Y-V epicanthoplasty for telecanthus correction in a patient with Waardenburg syndrome

Choi BG, Kim YH

Telecanthus is a common symptom accompanied by Waardenburg syndrome, a rare genetic disorder. The optimal surgery for telecanthus correction is still debated. A 28-year-old patient with Waardenburg syndrome underwent transnasal...
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Ectopic Preauricular Sinus in a Facial Cleft and Microtia Patient

Park JY, Lee S, Kim HJ, Jung SG

Preauricular sinus is a congenital malformation that is very commonly encountered among the general population and it has especially high prevalence among Asians when compared to other ethnic groups. It...
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Mucoperiosteal Flap Necrosis after Primary Palatoplasty in Patients with Cleft Palate

Rossell-Perry P, Cotrina-Rabanal O, Barrenechea-Tarazona L, Vargas-Chanduvi R, Paredes-Aponte L, Romero-Narvaez C

BACKGROUND: The prevalence of flap necrosis after palatoplasty in patients with cleft palate. The prevalence of mucoperiosteal flap necrosis after palatoplasty remains unknown, and this complication is rare. This event...
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The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

Han HH, Choi EJ, Kim JM, Shin JC, Rhie JW

BACKGROUND: The prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P) and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach...
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Craniofacial Asymmetry in Adults With Neglected Congenital Muscular Torticollis

Jeong KY, Min KJ, Woo J, Yim SY

OBJECTIVE: To evaluate the craniofacial asymmetry in adults with neglected congenital muscular torticollis (CMT) by quantitative assessment based on craniofacial three-dimensional computed tomography (3D-CT). METHODS: Preoperative craniofacial asymmetry was measured by...
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Clinical Application of Three-Dimensional Printing Technology in Craniofacial Plastic Surgery

Choi JW, Kim N

Three-dimensional (3D) printing has been particularly widely adopted in medical fields. Application of the 3D printing technique has even been extended to bio-cell printing for 3D tissue/organ development, the creation...
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A New Ultrasound Method for Assessment of Head Shape Change in Infants With Plagiocephaly

Kim JK, Kwon DR, Park GY

OBJECTIVE: To compare a new ultrasound measurement method with calliper cephalometry in infants with deformational plagiocephaly (DP) and to assess the differences of two methods according to the severity of...
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Half-and-Half Palatoplasty

Han HH, Kang IS, Rhie JW

A 14-month-old child was diagnosed with a Veau Class II cleft palate. Von Langenbeck palatoplasty was performed for the right palate, and V-Y pushback palatoplasty was performed for the left...
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A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome

Suh YJ, Kwon HW, Kim GB, Kwon BS, Bae EJ, Noh CI, Choi JY, Kim KH, Kim YJ, Park SS

Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ssR 1/2). The syndrome predisposes patients...
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Pyknodysostosis: report of a rare case with review of literature

Ramaiah KK, George GB, Padiyath S, Sethuraman R, Cherian B

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges,...
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Anesthetic management of a child with Apert syndrome : A case report

Kim YU, Choeong YS, Lee HM, Choi DK, Song JG, Choi KT

  • KMID: 2046042
  • Anesth Pain Med.
  • 2009 Oct;4(4):352-354.
Apert syndrome involves abnormal growth of several bones such as craniofacial abnormalities, craniosynostosis and syndactyly of the feet and hands. Apert syndrome often demonstrates to the operating room for craniofacial...
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Hemifacial Spasm: A Neurosurgical Perspective

Kong DS, Park K

Hemifacial spasm (HFS) is characterized by tonic clonic contractions of the muscles innervated by the ipsilateral facial nerve. Compression of the facial nerve by an ectatic vessel is widely recognized...
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Pituitary Adenoma Accompanying Sphenoidal Meningoencephalocele with Clival Extension

Kim TJ, Kim CH, Cheong JH, Kim JM

  • KMID: 2189061
  • J Korean Neurosurg Soc.
  • 2005 Sep;38(3):242-244.
Encephaloceles are known as rare craniofacial developmental anomalies which are herniation of cranial contents through a skull defect. Sphenoidal meningoencephalocele represents an important cause of reVersible visual loss. We report...
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