• Clinical and Experimental Pediatrics
• /
• v.45 no.7
• /
• pp.855-861
• /
• 2002

Purpose : Thymus size can be affected by several factors and perinatal diseases can be estimated by its size. The purpose of this study was to search for a relationship between cardiothymic/thoracic(CT/T) ratio and perinatal diseases such as neonatal respiratory distress syndrome(RDS) and intrauterine growth retardation(IUGR) by measuring the width of the cardiothymic shadow at the level of the carina and dividing it by the width of the thorax at the costophrenic angles. Methods : A clinical study was conducted on newborn infants with RDS(n=51), IUGR(n=27), and premature rupture of membranes(PROM, n=48), who were admitted at NICU of Catholic University of Daegu from June 2000 to Oct. 2001. CT/T ratio was measured within six hrs of age, at 2-3 days of age, and at 5-7 days of age. Results : CT/T ratios of RDS group, IUGR group, and PROM group were $0.46{\pm}0.07$, $0.32{\pm}0.04$. $0.36{\pm}0.06$, respectively. CT/T ratios of RDS group within 6hrs of age, at 2-3 days of age, and at 5-7 days of age were $0.43{\pm}0.07$, $0.34{\pm}0.06$, $0.25{\pm}0.04$, respectively. There were statistically significances among the RDS group, the IUGR group, and the PROM group and in the RDS group at different times. Regression for gestational age among three groups was not statistically significant but correlation for gestational age in the entire groups was statistically significant. CT/T ratio between normal spontaneous vaginal delivery and c-section among three groups was not statistically significant. CT/T ratios with dexamethasone-treated group and untreated group was not statistically significant. Conclusion : We concluded that thymus size differed significantly in the perinatal diseases such as RDS and IUGR, and so can be used as an early diagnostic tool for perinatal diseases.

• Neonatal Medicine
• /
• v.18 no.2
• /
• pp.248-256
• /
• 2011

Purpose: Intrauterine growth retardation (IUGR) is the term used to designate a fetus that has not reached its growth potential. However it is difficult to make a distinction between infants who are constitutionally small and growth restricted small. In the present study, we focused on the clinical characteristics and the hematologic value in small for gestational age (SGA) infants and discussed how to distinguish intrauterine growth restricted infants from constitutionally small infants. Methods: SGA infants that did not have any other risk factors for IUGR in the medical record except maternal hypertension (HTN) and diabetes mellitus (DM) and born at the Seoul St Mary's Hospital and Yeouido St Mary`s Hospital from January 2007 to July 2010 were included. The frequency of IUGR is higher in the pregnancy with medical problem, and in preterm infants. Therefore, the data was categorized by maternal disease and gestational age. We assessed the clinical data and the hematologic value. Results: The leukocyte count and the platelet count were lower in the SGA with maternal HTN group and the preterm SGA group. There was no difference in the clinical data and the prognosis resulted from maternal HTN and maternal DM. However, the hematologic difference was not found in the categorization of the preterm SGA group as maternal diasease. Conclusion: The results of this study showed that it is possible the low leukocyte count and the low platelet count are the characteristic hematologic features in growth restricted small for gestational age infants.

• Clinical and Experimental Pediatrics
• /
• v.55 no.2
• /
• pp.35-41
• /
• 2012

Passive exposure to tobacco smoke significantly contributes to morbidity and mortality in children. Children, in particular, seem to be the most susceptible population to the harmful effects of environmental tobacco smoke (ETS). Paternal smoking inside the home leads to significant maternal and fetal exposure to ETS and may subsequently affect fetal health. ETS has been associated with adverse effects on pediatric health, including preterm birth, intrauterine growth retardation, perinatal mortality, respiratory illness, neurobehavioral problems, and decreased performance in school. A valid estimation of the risks associated with tobacco exposure depends on accurate measurement. Nicotine and its major metabolite, cotinine, are commonly used as smoking biomarkers, and their levels can be determined in various biological specimens such as blood, saliva, and urine. Recently, hair analysis was found to be a convenient, noninvasive technique for detecting the presence of nicotine exposure. Because nicotine/cotinine accumulates in hair during hair growth, it is a unique measure of longterm, cumulative exposure to tobacco smoke. Although smoking ban policies result in considerable reductions in ETS exposure, children are still exposed significantly to tobacco smoke not only in their homes but also in schools, restaurants, child-care settings, cars, buses, and other public places. Therefore, more effective strategies and public policies to protect preschool children from ETS should be consolidated.

• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.15-18
• /
• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.37 no.1
• /
• pp.124-129
• /
• 2010

Seckel syndrome is an autosomal recessive disorder characterized by intrauterine growth retardation and post-natally by dwarfism, severe microcephaly, bird-headed profile with receding chin, prominent nose, joint defects, clubfoot, sparse hair, malformation of genitourinary tract and rectum, mental retardation and hematological disorders. There is also a reduction in the number of blood cells. Dental anomalies of Seckel syndrome are crowded teeth with malocclusion, enamel hypoplasia, absence of some teeth and taurodontism. This report described the oral and maxillofacial manifestations of children associated with Seckel syndrome. Children with Seckel syndrome have several dental and skeletal irregularities. The purpose of this study was to report the dental and medical characteristics of the patient and review the literatures of Seckel syndrome.

• Neonatal Medicine
• /
• v.16 no.1
• /
• pp.76-80
• /
• 2009

A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.n Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1 -->qter. Because Sp21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.

• Childhood Kidney Diseases
• /
• v.13 no.2
• /
• pp.256-260
• /
• 2009

The Russell-Silver syndrome (RSS) is a disease characterized by intrauterine growth retardation with preserved head circumference, facial dysmorphism and short stature. Reported renal and urinary manifestations of RSS include horseshoe kidney, renal tubular acidosis, hydronephrosis, ureteropelvic obstruction and vesicoureteral reflux. Here we report a case of end-stage renal disease associated with RSS, which, to the best of our knowledge, has not been reported yet.

• Clinical and Experimental Pediatrics
• /
• v.45 no.6
• /
• pp.804-808
• /
• 2002

We report a case of trisomy 22 in a liveborn male infant which was confirmed by fluorescence in situ hybridization(FISH), macrocultures and GTG-banding, and RHA-banding procedures of peripheral white blood cells. The infant showed lung hypoplasia, which is a unique presentation, with other clinical manifestations of previously reported cases of trisomy 22, such as intrauterine growth retardation, cleft palate, micrognathia, large atrial septal defect, limb anomalies, imperforate anus, and hypospadias. Our report gives weight to the previously reported observation that pulmonary hypoplasia may be associated in trisomy 22.

• Archives of Plastic Surgery
• /
• v.34 no.3
• /
• pp.406-408
• /
• 2007

Purpose: Despite a high frequency of acquired nail disease, congenital absence of the nail, also called as anonychia, is a rare anomaly. It may be seen as an isolated of phalangeal bone(ectrodactyly), nail-patella syndrome, birth trauma, impaired peripheral circulation, alopecia areata, and pemphigus, idiopathic atrophy of the nail, bullous drug eruptions, periodic shedding, lichen planus, Stenvens-Johnson syndrome and so forth. Methods: We have experienced a rare case of 40-day-old neonate, suffering from intrauterine growth retardation, but without familial history, chromosomal anomalies or any other diseases. Results: There was no nail on left 5th finger and distal phalangeal bone of same finger. So, We diagnosed as Congenital Anonychia with ectrodactyly of 5th Finger. Conclusion: We report this case as congenital anonychia of 5th finger which have developed from underlying distal phalangeal ectrodactyly. We also review other reported cased in the literatures.

• Neonatal Medicine
• /
• v.18 no.1
• /
• pp.117-123
• /
• 2011

Purpose: Congenital intrahepatic portosystemic shunts are rare disease and clinically asymptomatic shunts may be detected by chance on ultrasonogram before and after birth. We studied clinical course, treatment and prognosis of congenital intrahepatic portosystemic shunt at prenatal or neonatal period. Methods: Medical records of 8 patients which were diagnosed in intrahepatic portosystemic shunt in Cheil General Hospital from 2006 through 2010 were reviewed retrospectively. Results: Eight patients with congenital intrahepatic portosystemic shunts were identified. Six patients were diagnosed at prenatal radiological screening, including three cases of intrauterine growth restriction and two cases of preterm baby. One case with increased serum ammonia underwent coil embolization. In four cases including one case that presented elevated direct bilirubin, shunts were closed spontaneously within 11th month after birth. Two patients were diagnosed on abdominal sonogram after birth because of elevated direct hyperbilirubinemia, all of whom presented intrauterine growth restriction. Closure of shunts was confirmed during 4th month to 6th month. Conclusion: Congenital intrahepatic portosystemic shunts are clinically asymptomatic mostly and spontaneous closure is expected within 2 years age. But occasionally they have severe complication, so clinical and radiological observation is needed. Specially in cases of intrauterine growth retardation without evident cause, the possible diagnosis of congenital intrahepatic portosystemic shunts should be considered and prenatal and postnatal examination should be performed. When prenatal diagnosis is made, fetal wellbeing should be monitored periodically until spontaneous closure of shunts.