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Difficult intubation caused by an immature upper airway in a patient with cri-du-chat syndrome: a case report

So E, Kim S

Cri-du-chat syndrome (CdCS) is caused by the deletion of the short arm of chromosome 5. Most patients with CdCS develop intellectual disabilities. Therefore, they have poor oral hygiene and a...
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Real-Life Effectiveness and Tolerability of Perampanel in Pediatric Patients Aged 4 Years or Older with Epilepsy: A Korean National Multicenter Study

Hwang SK, Lee YJ, Nam SO, Kim WS, Kim JS, Kim SJ, Lee YJ, Kwon S

BACKGROUND AND PURPOSE: The US Food and Drug Administration approval for perampanel has only recently been expanded to patients as young as 4 years, and so there have been few...
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Anti-PP₁P(k) (Tj(a)) Antibody in a Korean Female Patient with p Phenotype Confirmed by Genotyping

Kim B, Choi SJ, Cho D, Kim S, Kim HO

In this study, we report a case of anti-PP₁P(k) (Tj(a)) alloantibody with p phenotype detected and confirmed in a 20-year-old Korean woman diagnosed with anemia during long-term rehabilitation treatment due...
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Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2

Kim YO, Lee YY, Kim MK, Woo YJ

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat–Wilson syndrome (MWS) typically present with facial gestalt, complex...
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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

Lee CG, Jang JH, Seo JY

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most...
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Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]

Gang MH, Lee YW, Lim HH, Chang MY

Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome...
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Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome

Lim C, Jung ST, Shin CH, Park MS, Yoo WJ, Chung CY, Choi IH, Ko JM, Cho TJ

BACKGROUND: Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. The incidence of hip dislocation in...
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Dental Management in a Patient with Congenital Insensitivity to Pain with Anhidrosis : A Case Report

Bae C, Lee D, Kim J, Yang Y

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disorder; affected patients are characterized by inability to feel pain and to sweat over the entire body, as...
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Referral Trends of Children in Jeonbuk National University Dental Hospital for Last 3 years

Bae C, Lee D, Kim J, Yang Y

The purpose of this study was to analyze outpatient referral patterns of children in Jeonbuk National University Dental Hospital. All patients under 16 years old who were consulted from the...
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Late avulsion of a free flap in a patient with severe psychiatric illness: Establishing a successful salvage strategy

Schaffer C, Hart A, Watfa W, Raffoul W, di Summa P

Post-traumatic defects of the distal third of the leg often require skipping a few steps of the well-established reconstructive ladder, due to the limited local reliable reconstructive options. In rare...
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Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-associated Protein 13b (Vps13b) Mutant Mouse

Kim MJ, Lee RU, Oh J, Choi JE, Kim H, Lee K, Hwang SK, Lee JH, Lee JA, Kaang BK, Lim CS, Lee YS

Vacuolar protein sorting-associated protein 13B (VPS13B), also known as COH1, is one of the VPS13 family members which is involved in transmembrane transport, Golgi integrity, and neuritogenesis. Mutations in the...
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Clinical Usefulness of the Korean Developmental Screening Test (K-DST) for Developmental Delays

Jang CH, Kim SW, Jeon HR, Jung DW, Cho HE, Kim J, Lee JW

OBJECTIVE: To evaluate the clinical usefulness of the Korean Developmental Screening Test (K-DST) via comparison with Korean Ages and Stages Questionnaire (K-ASQ) for the diagnosis of developmental delay in pediatric...
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Effects site concentrations of propofol using target-controlled infusion in dental treatment under deep sedation among different intellectual disability types

Salinas Salmeron KS, Kim HJ, Seo KS

BACKGROUND: We aimed to assess the dose needed to achieve the propofol effect-site concentration using target-controlled infusion in intellectually disabled patients and to detail the most effective method for achieving...
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Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome

Kim JY, Park SS, Yang HR

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal...
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Effects of Therapeutic Horseback Riding on Cognition and Language in Children With Autism Spectrum Disorder or Intellectual Disability: A Preliminary Study

Kwon S, Sung IY, Ko EJ, Kim HS

OBJECTIVE: To investigate if therapeutic horseback riding (THR) can improve language and cognitive function in children with autism spectrum disorder (ASD) or intellectual disability (ID). METHODS: We conducted a prospective case-control...
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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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Normal and Disordered Formation of the Cerebral Cortex : Normal Embryology, Related Molecules, Types of Migration, Migration Disorders

Lee JY

The expansion and folding of the cerebral cortex occur during brain development and are critical factors that influence cognitive ability and sensorimotor skills. The disruption of cortical growth and folding...
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What Else Is Needed in the Korean Government's Master Plan for People With Developmental Disabilities?

Lee JY, Yun J

On September 12, 2018, President Jae-In Moon announced the Comprehensive Plan for Lifelong Care for People with Developmental Disabilities, with representatives from the associated government branches (Ministry of Health and...
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Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome

Kim WJ

Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched...
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