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Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure

Jun S, Lee Y, Oh A, Kim GH, Seo E, Lee BH, Choi JH, Yoo HW

PURPOSE: Potocki–Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in...
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Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report

Kang SJ, Lee R, Kim HS

Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in...
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Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

Kim YA, Jin HY, Kim YM

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 (IGHMBP2) gene, leading to...
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Micronutrients Are Not Deficient in Children with Nonorganic Failure to Thrive

Hong J, Park S, Kang Y, Koh H, Kim S

PURPOSE: Inadequate calorie intake is one of the most important causes of nonorganic failure to thrive (NOFTT) and is thought to lead to multiple micronutrient deficiencies. However, there have been...
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Hypertension secondary to renal hypoplasia presenting as acute heart failure in a newborn

Deitrick J, Stevenson , Nguyen D, Sessions W, Linga V, Vasylyeva

INTRODUCTION: Neonatal hypertension is defined as persistent systolic and/or diastolic blood pressures above the 95th percentile compared to other infants of similar gestational age and size. Neonatal hypertension is a...
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Transient Pseudohypoaldosteronism in a 5-Month-old Infant Manifested as a Failure to Thrive

Lee JW, Cho SJ, Kim HS

Pseudohypoaldosteronism (PHA) in infants is manifested by presence of hyperkalemia, hyponatremia, and metabolic acidosis. At initial stages, PAH is generally suspected as congenital adrenal hyperplasia. Transient PHA has been reported...
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Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing

Gill I, Kim JH, Moon JH, Kim YJ, Kim NS

X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of...
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A contact investigation after exposure to a child with disseminated tuberculosis mimicking inflammatory bowel disease

Kim D, Lee S, Kang SH, Park MS, Yoo SY, Jeon TY, Choi JS, Kim B, Choi JR, Cho SY, Chung DR, Choe YH, Kim YJ

PURPOSE: Tuberculosis (TB) is one of the most important diseases that cause significant mortality and morbidity in young children. Data on TB transmission from an infected child are limited. Herein,...
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Endoscopic Balloon Dilation for Treatment of Congenital Antral Web

Peck J, Khalaf R, Marth R, Phen C, Sosa R, Cordero FB, Wilsey M

Congenital antral webs are a rare but relevant cause of gastric outlet obstruction in infants and children. The condition may lead to feeding refusal, vomiting, and poor growth. Due to...
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Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease

Ferreira H, Ramos RN, Quan CF, Ferreiro S, Ruiz VC, Juampérez Goñi J, Quintero Bernabeu J, Segarra Cantón O, Álvarez Beltran M

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to...
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Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families

Park E, Phaymany V, Yi ES, Phangmanixay S, Cheong HI, Choi Y

Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and...
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FOXP3 Mutation in a Patient with Proportional Microcephaly and Developmental Delay

Cho HJ, Choi GE, Kim YO, Park C, Yang EM, Kim CJ, Kim MK, Shin MG, Woo YJ

Most cases of microcephaly with growth failure and developmental delay have a genetic or metabolic etiology. Whole-exome sequencing (WES) has uncovered many causative genes and has also broadened their phenotypic...
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Effects of zinc supplementation on catch-up growth in children with failure to thrive

Park SG, Choi HN, Yang HR, Yim JE

BACKGROUND/OBJECTIVES: Although globally the numbers of children diagnosed with failure to thrive (FTT) have decreased, FTT is still a serious pediatric problem. We aimed to investigate the effects of zinc...
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Health-Care Utilization and Complications of Endoscopic Esophageal Dilation in a National Population

Goyal A, Chatterjee K, Yadlapati , Singh S

BACKGROUND/AIMS: Esophageal stricture is usually managed with outpatient endoscopic dilation. However, patients with food impaction or failure to thrive undergo inpatient dilation. Esophageal perforation is the most feared complication, and...
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Eradication Therapy for Pediatric Helicobacter pylori Infection

Seo JH, Youn HS

In children, Helicobacter pylori infection causes gastritis, peptic ulcer, and extraintestinal manifestations such as refractory iron deficiency anemia, failure to thrive, and chronic idiopathic thrombocytopenia. The outcomes of recommendations for...
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Overall Profile of a Pediatric Multidisciplinary Feeding Clinic

Jung JS, Chang HJ, Kwon JY

OBJECTIVE: To evaluate the overall profile of children with feeding disorders and their relationships to medical conditions in an outpatient feeding clinic of a tertiary hospital. METHODS: The medical records of...
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Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome

Yoo TY, Kim MR, Son JS, Lee R, Bae SH, Chung S, Kim KS, Seong MW, Park SS

Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in...
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Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea

Jo HC, Yoon JS, Jang JY, Sohn YB, Lee JH, Cheong HI, Park MS

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease, which is characterized by electrolyte absorption defect due to impaired function of the Cl-/HCO3 - exchanger in the ileum and the...
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Primary Adrenal Insufficiency in a Newborn With Adrenal Hypoplasia Congenita Caused by a Mutation of the DAX1 Gene

Park SH, Hong YH, Kim SS

Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal gland caused by deletion or mutation of the dosage-sensitive sex-reversal AHC critical region on the X chromosome, gene...
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Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes

Jeong HA, Park YK, Jung YS, Nam MH, Nam HK, Lee KH, Rhie YJ

Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing...
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