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Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)

Lee D, Jang JH, Lee CG

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It...
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Noonan syndrome and RASopathies: Clinical features, diagnosis and management

Lee BH, Yoo HW

Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and...
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Frontonasal dysplasia: A case report

Lee SI, Lee SJ, Joo HS

Frontonasal dysplasia is an uncommon congenital anomaly with diverse clinical phenotypes and highly variable clinical characteristics, including hypertelorism, a broad nasal root, median facial cleft, a missing or underdeveloped nasal...
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Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant

Jung YJ

A premature infant with gestational age 36⁺⁴ 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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Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing

Hong JH, Kim SH, Lee ST, Choi JR, Kang HC, Lee JS, Kim HD

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause...
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Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome

Cha BK, Choi DS, Jang IS, Yook HT, Lee SY, Lee SS, Lee SK

BACKGROUND: A 9-year-old male showed severe defects in midface structures, which resulted in maxillary hypoplasia, ocular hypertelorism, relative mandibular prognathism, and syndactyly. He had been diagnosed as having Apert syndrome...
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Surgical correction of grade III hypertelorism

Haq EU, Qayyum MU, Ilahı MI, Janjua SA, Aslam A, Zahra R

Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of...
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Unusual Position and Presentation of Frontobasal Meningoencephalocela

Busic Z, Krnic M, Busic N, Ledenko V

We wish to show our experiance with threating a rare congenital brain malformation-encephalocele. It is a protusion of brain matter with greater incidence in the Far East. Our case is...
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Treatment of Keratocystic Odontogenic Tumors in Nevoid Basal Cell Carcinoma Syndrome

Ryu HH, Shin DY, Ryu SH, Kim TW, Lee JB, Kim BJ, Kim CH

  • KMID: 2004416
  • J Korean Assoc Maxillofac Plast Reconstr Surg.
  • 2014 Jan;36(1):7-12.
Nevoid basal cell carcinoma syndrome (NBCCS) is inherited as an autosomal dominant trait with variable conditions, including multiple basal cell carcinoma, numerous keratocystic odontogenic tumors (KOTs) in the jaws, ectopic...
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LEOPARD Syndrome with PTPN11 Gene Mutation

Kim JM, Mun J, Song M, Kim HS, Kim BS, Kim MB, Ko HC

  • KMID: 1427410
  • Korean J Dermatol.
  • 2013 Aug;51(8):635-638.
LEOPARD syndrome is an autosomal dominant inherited disease with multiple congenital anomalies. LEOPARD is an acronym for Lentigines, Electrocardiographic conduction defects, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retardation...
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Neurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report

Lee YJ, Yum MS, Kim EH, Choi HW, Lee BH, Yoo HW, Ko TS

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-beta receptor type 1 or 2. It is typically characterized by a...
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Dental Treatment of Children with CATCH 22 Syndrome: Case Report

Kim MS, Lee SE, Ahn HJ, Park JH, Choi SC

CATCH 22 syndrome is a one of the most common chromosome microdeletion syndrome with multiple organ anomalies in humans, with an incidence of approximately 1:4,000 to 1:5,000 live births. It...
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Craniometaphyseal Dysplasia

Kim SR, Han YS

No abstract available.
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A Case Report of Noonan Syndrome with Mental Retardation and Attention-Deficit Hyperactivity Disorder

Kim WW, Shim SH

  • KMID: 2291659
  • J Korean Acad Child Adolesc Psychiatry.
  • 2012 Mar;23(1):31-35.
Noonan syndrome is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The main facial features of Noonan syndrome are hypertelorism with down-slanting palpebral fissures, ptosis, and low-set...
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A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

Ko JM, Hah JH, Kim SW, Cho TJ, Kim GH, Yoo HW

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are...
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A Wedge-Shaped Anterior Hairline Extension Associated with a Tessier Number 10 Cleft

Lee HM, Noh TK, Yoo HW, Kim SB, Won CH, Chang SE, Lee MW, Choi JH, Moon KC

A wedge-shaped anterior hairline extension is a very rare skin manifestation usually associated with congenital anomalies including a Tessier number 10 cleft. Other associated conditions are the Tessier number 9...
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Basal Cell Nevus Syndrome Showing Several Histologic Types of Basal Cell Carcinoma

Go JW, Kim SH, Yi SY, Cho HK

Basal cell nevus syndrome (BCNS), or Gorlin Syndrome, is an autosomal dominant disorder, characterized by multiple developmental abnormalities and associated with germline mutations in the PTCH gene. Patients show multiple...
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LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD

Kim J, Kim MR, Kim HJ, Lee KA, Lee MG

LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation...
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Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis

Ko JM, Yang JA, Jeong SY, Yoon SH

  • KMID: 2184490
  • J Genet Med.
  • 2011 Dec;8(2):130-134.
Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical...
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A Case of Partial Trisomy 9 due to Maternal Balanced Translocation t(9;21)(q21.2;q11.2)

Shin IS, Jung WJ, Jin JY, Lee WR

  • KMID: 1845273
  • Korean J Perinatol.
  • 2010 Sep;21(3):302-305.
Trisomy 9 syndrome was first reported by Retheore in 1970 and has been rarely reported. This syndrome consists of partial and complete trisomy 9. It is characterized by growth and...
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