Lange-Giedion syndrome, or trichorhinophalangeal syndrome type 2 (TRPSII), is a clinical syndrome characterized by mild growth restriction, mental retardation, microcephaly and dysmorphic face. Bulbous nose, large protruding ears and loose redundant skin are distinguishing features, as well as lax joints and phalangeal abnormalities of the hands and multiple exostoses. TRPS1 and EXT1 gene deletion are responsible for this. Diagnosis is mainly based on clinical and radiographic features. In Korea, no cases of this disease have been reported thus far. Along with a review of the literature, we report a case of TRPSII in a neonate who had peculiar face representing TRPSII, polydactyly, Mullerian duct cyst, and ptosis and was found to have an interstitial deletion of 8q23-24.1.
Diagnosis ; Ear ; Exostoses, Multiple Hereditary ; Gene Deletion ; Hand ; Humans ; Infant, Newborn ; Intellectual Disability ; Joints ; Korea ; Langer-Giedion Syndrome* ; Microcephaly ; Nose ; Polydactyly ; Skin

PURPOSE: To investigate and compare the clinical manifestation and prognosis of preterm and full-term infants with Down syndrome (DS). METHODS: We retrospectively reviewed 80 patients diagnosed with DS and confirmed by chromosomal study at the Samsung Medical Center between January 1994 and July 2014. Data on demographic characteristics, associated anomalies, treatment, prognosis and cause of death were compared between preterm and full-term DS infants. RESULTS: Of the 80 confirmed DS patients, there were 49 (61%) full-term and 31 (38%) preterm DS infants. The mean gestational age of full-term DS infants was 38(+1)+/-0(+2) weeks (range, 37(+0)-40(+0) weeks) and the mean birth weight was 3,007+/-418 g (range, 1,930-4,100 g). The mean gestational age of preterm infants was 34(+1)+/-2(+1) weeks (range, 29(+1)-36(+6) weeks) and the mean birth weight was 2,181+/-598 g (range, 890-3,500 g). There were no differences in demographics, associated anomalies, mortality or related factors, or the rate of active treatment between full-term and preterm DS infants. CONCLUSION: In this single center study, the mortality rate of preterm DS infants was comparable to that of full-term DS infants. Larger national cohort studies might be needed to further investigate the prognosis of preterm DS infants.
Birth Weight ; Cause of Death ; Cohort Studies ; Demography ; Down Syndrome* ; Gestational Age ; Humans ; Infant* ; Infant, Newborn ; Infant, Premature ; Mortality ; Prognosis* ; Retrospective Studies

PURPOSE: This study aimed to evaluate the prognosis of necrotizing enterocolitis (NEC) according to the extent of involvement, among very low birth weight infants. Furthermore, the predictive factors for extent of involvement were evaluated. METHODS: Medical records of all newborns with surgically treated NEC admitted to the neonatal intensive care unit of Seoul National University Children's Hospital between 2005 and 2013 were reviewed. Infants were grouped according to the extent of involvement of NEC: isolated segment involvement (ISI, n=31) and multi-segment involvement (MSI, n=17). We evaluated the clinical characteristics, outcomes, and pre-operative factors according to symptoms, laboratory and radiologic findings. RESULTS: The incidence of small for gestational age was significantly higher in the MSI than ISI group (12.9% vs. 41.2%, P=0.036). The length of resected bowel was significantly longer (1.7 cm vs. 8 cm, P=0.010), and the incidence of short bowel syndrome (SBS) (0% vs. 23.1%, P=0.023) and mortality (3.2% vs. 23.5%, P=0.047) were significantly higher in the MSI than ISI group. However, there was no significant difference between the two groups in terms of high-output stoma, time of full enteral feeding, extrauterine growth retardation, changes of z-score of body weight between admission and discharge and reoperation. Portal vein gas detected by ultrasonography was the only statistically significant predictive factor of extent of involvement (odds ratio=13.237, P=0.029). CONCLUSION: SBS and mortality were higher in MSI NEC compared to ISI NEC. However, there was no difference in the time of full enteral feeding and growth between the two groups. Portal vein gas detected by ultrasonography maybe a predictive factor of extent of NEC.
Body Weight ; Enteral Nutrition ; Enterocolitis, Necrotizing* ; Gestational Age ; Humans ; Incidence ; Infant* ; Infant, Newborn ; Infant, Very Low Birth Weight* ; Intensive Care, Neonatal ; Medical Records ; Mortality ; Portal Vein ; Prognosis* ; Reoperation ; Seoul ; Short Bowel Syndrome ; Ultrasonography

PURPOSE: The purpose of this study was to examine the usefulness of abdominal sonography in the diagnosis of necrotizing enterocolitis (NEC). METHODS: We reviewed the medical records of 51 neonates who were diagnosed with NEC in the neonatal intensive care unit at Yeouido St. Mary's Hospital of the Catholic University in Korea between January 2008 and December 2012. The neonates underwent abdominal ultrasonography on the day of their diagnosis and on the third day after diagnosis. Simple abdominal radiography was performed on the same day as the sonography. The neonates were diagnosed with NEC in accordance with the abdominal sonographic findings. Abdominal radiography and sonography were used to assess the NEC stages in the neonates. RESULTS: On the day of NEC diagnosis by abdominal sonography, 50 neonates were diagnosed with stage II NEC and 1 was diagnosed with stage III NEC. However, simple radiography diagnosed 49 neonates with stage I NEC, 1 with stage II NEC, and 1 with stage III NEC. On the third day after NEC diagnosis by abdominal sonography, 48 neonates were diagnosed with stage II NEC and 3 were diagnosed with stage III NEC. On the other hand, simple radiography diagnosed 26 neonates with stage I NEC, 24 with stage II NEC, and 1 with stage III NEC. CONCLUSION: Abdominal sonography can be used as a tool for accurately diagnosing NEC and treating neonates showing ambiguous symptoms during the early stages of NEC.
Diagnosis* ; Early Diagnosis ; Enterocolitis, Necrotizing* ; Hand ; Humans ; Infant, Newborn ; Intensive Care, Neonatal ; Korea ; Medical Records ; Radiography ; Radiography, Abdominal ; Ultrasonography

PURPOSE: This study investigated the risks of development and surgical complications of meconium obstruction (MO) in very low birth weight (VLBW) infants. METHODS: We performed a retrospective medical record review of VLBW infants admitted to the neonatal intensive care unit of Haeundae Paik hospital and diagnosed with MO of prematurity (MOP) between March 2010 and August 2013. RESULTS: Of 267 VLBW infants admitted to the neonatal intensive care unit, 28 were diagnosed with MOP. Perinatal factors including maternal pregnancy-induced hypertension and small for gestational age were associated with MOP development (P<0.05). Over two-thirds of VLBW infants with MOP were successfully treated with a gastrografin enema. The remaining eight VLBW infants required surgery. Although small for gestational age was more frequent in the medical treatment group, specific risk factors associated with MOP development did not affect the need for surgical intervention. CONCLUSION: MOP is common in VLBW infants, as most VLBW infants have risk factors for MOP. Identifying risk factors permits early diagnosis and initiation of appropriate medical treatment, reducing the necessity for surgery. However, the presence of specific risk factors does not increase risk of surgical complications.
Diatrizoate Meglumine ; Early Diagnosis ; Enema ; Female ; Gestational Age ; Humans ; Hypertension, Pregnancy-Induced ; Infant* ; Infant, Newborn ; Infant, Very Low Birth Weight* ; Intensive Care, Neonatal ; Meconium* ; Medical Records ; Pregnancy ; Retrospective Studies ; Risk Factors*

PURPOSE: We aimed to evaluate the effects of two different macrolide prophylaxis protocols (prenatal and postnatal) for Ureaplasma on the development of bronchopulmonary dysplasia (BPD). METHODS: We retrospectively reviewed the medical charts of 121 preterm infants whose birth weights were <1,250 g or gestational ages were <30 postmenstrual weeks. The demographic and clinical characteristics, including the presence of BPD, were compared between a prophylactic group, who received macrolide as prophylaxis prenatally and postnatally according to risk level, and a confirmed treatment group, who received macrolide prenatally and postnatally after detection of Ureaplasma infection. RESULTS: Seventy-four (61.2%) of 121 preterm infants were included in the prenatal prophylaxis group. No significant differences in demographic characteristics were observed between the prenatal prophylaxis and prenatal confirmed treatment group. The detection rate of Ureaplasma and the frequency of postnatal therapeutic treatment with macrolide were lower in the prenatal prophylaxis group than in the prenatal confirmed treatment group (16.2% vs. 40.4%, P=0.003; 8.1% vs. 48.9%, P< 0.001, respectively). Although no significant differences in the incidence of moderate to severe BPD, the rate of severe BPD was lower in the prenatal prophylaxis group than in prenatal confirmed treatment group (18.9% vs. 40.4%, P=0.010). No significant differences in the incidences of BPD of any level of severity were observed between the postnatal prophylaxis and confirmed treatment groups. CONCLUSION: Administration of prenatal prophylaxis with macrolide decreased the detection rate of Ureaplasma after birth and was associated with the decrease in the incidence of severe BPD in preterm infants.
Birth Weight ; Bronchopulmonary Dysplasia* ; Gestational Age ; Humans ; Incidence ; Infant ; Infant, Newborn ; Infant, Premature* ; Macrolides ; Parturition ; Retrospective Studies ; Ureaplasma Infections ; Ureaplasma*

Inhaled nitric oxide (iNO) is a potent and selective pulmonary vasodilator agent that improves arterial oxygenation and subsequent clinical outcomes for newborn infants with persistent pulmonary hypertension of the newborn (PPHN). Along with beneficial pharmacological properties, iNO also shows toxicological effects. Although the side effects of iNO have not been fully understood, these need to be thoroughly considered and monitored for the safe and effective clinical use of iNO. This article presents a review of the side effects of iNO and short-term and long-term clinical prognosis in newborn infants > or =34 weeks' gestation with PPHN.
Female ; Humans ; Hypertension, Pulmonary* ; Infant, Newborn* ; Nitric Oxide* ; Oxygen ; Persistent Fetal Circulation Syndrome ; Pregnancy ; Prognosis*

Inhaled nitric oxide (iNO) is recognized as a potent and selective pulmonary vasodilator that does not decrease systemic vascular tone. The therapeutic application of iNO in human was first described in 1991. Subsequent reports showed that iNO therapy was effective to improve oxygenation in infants with persistent pulmonary hypertension of the newborn (PPHN). Owing to its selective pulmonary vasodilator effects, iNO therapy is an important treatment for term newborns with hypoxemic respiratory failure due to PPHN. The Food and Drug Administration of the United States of America first approved iNO in 1999 for use as a medical gas to treat hypoxic respiratory failure associated with clinical or echocardiographic evidence of pulmonary hypertension in term and late preterm neonates. Thereafter, iNO therapy is clinically applied to treat PPHN in term and late preterm neonates without consensus. In this review, we focused on the clinical practice of iNO therapy in PPHN. Based on published studies, we discuss iNO initiation and withdrawal methods, respiratory support devices that complement iNO therapy, and the patient and gas monitoring during iNO therapy.
Americas ; Complement System Proteins ; Consensus ; Echocardiography ; Female ; Humans ; Hypertension, Pulmonary* ; Infant ; Infant, Newborn* ; Nitric Oxide* ; Oxygen ; Persistent Fetal Circulation Syndrome ; Respiratory Insufficiency ; United States ; United States Food and Drug Administration

Nitric oxide (NO) is a colorless, odorless gas that acts as a potent pulmonary vasodilator. When administered via inhalation, NO rapidly diffuses across the alveolarcapillary membrane and binds to hemoglobin, and thus has little effect on the systemic circulation. NO was approved by the United States Food and Drug Administration (US FDA) for the treatment of hypoxic respiratory failure associated with pulmonary hypertension in 1999. Neonatal hypoxic respiratory failure may be caused by persistent pulmonary hypertension of the newborn and other diseases such as meconium aspiration syndrome, sepsis, birth asphyxia, and respiratory distress syndrome that contribute to pulmonary arterial hypertension. Inhaled NO is the only approved treatment in term and late preterm (>34 weeks) neonates with hypoxic respiratory failure associated with pulmonary hypertension, and it reduces the need for extracorporeal membrane oxygenation. The present article will review the clinical indications for US FDA-approved inhaled NO therapy according to evidence-based clinical studies.
Asphyxia ; Extracorporeal Membrane Oxygenation ; Female ; Humans ; Hypertension ; Hypertension, Pulmonary ; Infant, Newborn* ; Inhalation ; Meconium Aspiration Syndrome ; Membranes ; Nitric Oxide* ; Parturition ; Persistent Fetal Circulation Syndrome ; Respiratory Insufficiency ; Sepsis ; United States Food and Drug Administration

We have corrected the table.