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KCNQ2 Encephalopathy Showing a Distinct Ictal Amplitude-Integrated Electroencephalographic Pattern

Kwak N, Lee YJ, Kim D, Hwang SK, Kwon S, Lee EJ

KCNQ2 mutations induce a neonatal-onset epileptic encephalopathy of widely varying severity, ranging from benign familial neonatal epilepsy to severe refractory epileptic encephalopathy. Refractory seizures with KCNQ2 mutations have a positive...
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Sporadic Cleidocranial Dysplasia in a Newborn: A 4-Year Follow-up Study

Kim JH, Kim SJ, Kim HH, Kim JK

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplastic disease associated with mutations in the gene encoding the Runt-related transcription factor 2 (RUNX2). CCD is characterized by hypoplastic clavicles...
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Effects of Music Intervention Techniques on Very-Low-Birth-Weight Infants in Neonatal Intensive Care Unit: A Preliminary Study

Yun JY, Kim JS, Shim SY, Cho SJ, Park EA, Chong HJ

Purpose: The aim of this study was to evaluate the physiological and behavioral effects of auditory stimulation with their own parent’s voice on heart rate and sleep states of very-low-birth-weight...
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14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay

Kwon JH, Song YH, Yoon JM, Cheon EJ, Ko KO, Lim JW, Kim HJ

14q12q13.3 Deletion is a rare microdeletion syndrome associated with neurodevelopmental delay, failure to thrive, seizures, and abnormal brain development. Symptoms vary depending on the sites of gene deletion, and establishing...
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Developmental Outcome of Very-Low-Birth-Weight Infants without Major Brain Injuries Based on Data from the Korean Neonatal Network: A Nationwide Cohort Study

Cha JH, Choi N, Kim YJ, Lee HJ, Kim CR, Park HK

Purpose: As preterm infants have shown advances in survival rate, many very-lowbirth-weight (VLBW) infants have shown developmental delay even without a major brain injury. Thus, the incidence of and risk...
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Neurodevelopmental Outcomes of Moderate-to-Late Preterm Infants

Nam YS, Heo JS, Byeon JH, Lee EH

Purpose: Preterm infants are known to be at a risk of neurodevelopmental delay; however, limited data are available on the outcomes of moderate-to-late preterm (MLPT) infants (born at 32 to...
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Early Onset Type 2 Diabetes Mellitus in Non-Obese Adolescents Born Small for Gestational Age

Choi HY, Lee J, Kim D, Suh JS, Bin JH, Lee SY, Cho KS

Being born small for gestational age (SGA) has been strongly associated with mortality during the perinatal period and long-term risk of metabolic syndrome, including type 2 diabetes mellitus, hypertension, hyperlipidemia,...
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Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation

Lee HN, Kim CY, Jung E, Lee BH, Lee BS, Kim EAR, Kim KS

Campomelic dysplasia (CD) is a rare genetic disease characterized by skeletal dysplasia that also affects several other organ systems. CD is caused by a SOX9 mutation. We here report a...
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Acute Fetomaternal Hemorrhage Confirmed by Maternal Alfa-Fetoprotein in Monochorionic Diamniotic Neonates under 1,500 g

Yoo C, Han S, Jeong H, Heo JS, Lee HS, Jeon J

Fetomaternal hemorrhage (FMH) is due to the entry of fetal blood into the maternal circulation. Although very rare, FMH complicates pregnancies, presents with severe symptoms, and leads to fetal death....
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Neurodevelopmental Correlations between the Korean Developmental Screening Test and Bayley Scale III in Very-Low-Birth-Weight Infants

Han S, Kim O, Yoo C, Heo JS, Lee HS, Jeon J

Purpose: We aimed to analyze the correlations between the Bayley Scales of Infant Development (BSID)-III and Korean Developmental Screening Test (K-DST) in very-low-birth-weight (VLBW; birth weight
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