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1.
Pediatr Nephrol ; 39(4): 1271-1277, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37947899

RESUMEN

BACKGROUND: This study aimed to investigate the prevalence of acute kidney injury (AKI) in infants with varying degrees of hypoxic-ischemic encephalopathy (HIE) and its associated outcomes, including mortality and length of stay (LOS). METHODS: The study used the National Inpatient Sample (NIS) dataset from 2010 to 2018. Regression analysis was used to control confounding variables. RESULTS: Of 31,220,784 infants included in the study, 30,130 (0.1%) had HIE. The prevalence of AKI was significantly higher in infants with HIE (9.0%) compared to those without (0.04%), with an adjusted odds ratio (aOR) of 77.6 (CI:70.1-85.7, p < 0.001), with the highest prevalence of AKI in infants with severe HIE (19.7%), aOR:130 (CI: 107-159), p < 0.001). Infants with AKI had a higher mortality rate compared to those without AKI in those diagnosed with any degree of HIE (28.9% vs. 8.8%), aOR 3.5 (CI: 3.2-3.9, p < 0.001), particularly among those with severe HIE, aOR:1.4 (1.2-1.6, p < 0.001). CONCLUSIONS: HIE is associated with an increased prevalence of AKI. Infants with severe HIE had the highest prevalence of AKI and associated mortality. The study highlights the need for close monitoring and early detection of AKI in infants with HIE, particularly those with severe HIE, to ameliorate the associated adverse outcomes.


Asunto(s)
Lesión Renal Aguda , Hipotermia Inducida , Hipoxia-Isquemia Encefálica , Humanos , Lactante , Hipoxia-Isquemia Encefálica/complicaciones , Hipoxia-Isquemia Encefálica/epidemiología , Lesión Renal Aguda/etiología , Lesión Renal Aguda/complicaciones , Análisis de Regresión , Prevalencia , Tiempo de Internación
3.
Am J Obstet Gynecol ; 227(5): 751.e1-751.e10, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-35690081

RESUMEN

BACKGROUND: Despite recent advances in perinatal care, neonatal hypoxic-ischemic encephalopathy remains one of the most common causes of neonatal morbidity and mortality. The trends for prevalence and mortality of neonatal hypoxic-ischemic encephalopathy have not been examined in the era of therapeutic hypothermia in the United States. OBJECTIVE: This study aimed to determine (1) the overall and gestational age-specific (35-36, ≥37, and >42 weeks) trends of hypoxic-ischemic encephalopathy prevalence and use of therapeutic hypothermia, (2) the trends of mortality in association with hypoxic-ischemic encephalopathy, (3) the confounding variables associated with hypoxic-ischemic encephalopathy, and (4) the clinical outcomes of neonates with hypoxic-ischemic encephalopathy. STUDY DESIGN: This study used National Inpatient Sample datasets from 2010 to 2018. Moreover, the study included infants with a gestational age of ≥35 weeks with a documented hypoxic-ischemic encephalopathy diagnosis (mild, moderate, severe, or unspecified). We calculated trends in hypoxic-ischemic encephalopathy prevalence and the use of therapeutic hypothermia using chi-squared testing. Furthermore, this study used logistic regression models to control for confounders. RESULTS: A total of 32,180,617 infants were included, of which 31,249,100 were term (gestational age of ≥37 weeks) and 931,517 were late preterm (gestational age of 35-36 weeks). Hypoxic-ischemic encephalopathy prevalence slightly increased from 0.093% in 2010-2012 to 0.097% in 2016-2018 (P=.01) in term infants and did not significantly change in late preterm infants (P=.20). There were 6235 term infants (20.8%) and 449 late preterm infants (21.1%) with hypoxic-ischemic encephalopathy who were managed with therapeutic hypothermia. The use of therapeutic hypothermia in both term and late preterm infants has increased over the years (P<.01). The mortality rate with hypoxic-ischemic encephalopathy decreased over time from 11.5% to 12.3% between 2010 to 2012, and from 8.3% to 10.6% betweenn 2016 to 2018 (P<.01). The factors with the strongest association with hypoxic-ischemic encephalopathy were placental infarction or insufficiency (odds ratio, 144; 95% confidence interval, 134-157), placental abruption (odds ratio, 101; 95% confidence interval, 91-112), cord prolapse (odds ratio, 74; 95% confidence interval, 65-84), and maternal anemia (odds ratio, 26; 95% confidence interval, 20-37). CONCLUSION: Hypoxic-ischemic encephalopathy prevalence in neonates essentially remained the same at 1 per 1000 live births. The use of therapeutic hypothermia increased, and the mortality rate decreased in infants with hypoxic-ischemic encephalopathy. The identification of hypoxic-ischemic encephalopathy-associated factors should promote increased vigilance to optimize newborn outcomes.

4.
Pediatr Pulmonol ; 56(8): 2583-2588, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34002954

RESUMEN

OBJECTIVES: Pneumothorax (PTX) in newborns is a life-threatening condition associated with high morbidity and mortality especially in premature infants. The frequency of PTX in neonates at different gestational ages (GA) and its impact on neonatal mortality have not been quantified. We aimed to determine: (1) the prevalence of PTX in neonates at different GA from ≤24 to ≥37 weeks, (2) the impact of PTX on mortality per GA, and (3) the impact of PTX on the length of stay (LOS) per GA. METHODS: The national Kids' Inpatient Database for the years of 2006-2012 were used. We included all infants admitted to the hospital with a documented GA and International Classification of Disease 9 code of PTX. Bivariate and multivariate analyses were conducted and odds ratios (OR) were calculated. RESULTS: A total of 10,625,036 infants were included; of them 3665 infants (0.034%) had a diagnosis of PTX, with highest prevalence at ≤24 weeks GA (0.67%), and lowest at term (0.02%). The overall mortality rate of patients with PTX was 8.8%, and greater in preterm (16.3%) versus term infants (2.7%). The association of mortality with PTX was greatest at GA of 29-32 weeks (OR = 8.55; 95% confidence interval: 6.56-11.13). Infants who survived until discharge had a median of 2-12 days longer LOS depending on GA category. CONCLUSIONS: The prevalence of PTX peaks in infants less than 24 weeks, however, its impact on mortality is greatest at 29-32 weeks. PTX is associated with longer LOS in survivors.


Asunto(s)
Enfermedades del Prematuro , Neumotórax , Edad Gestacional , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Neumotórax/epidemiología , Prevalencia
5.
J Matern Fetal Neonatal Med ; 27(4): 402-6, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23790085

RESUMEN

OBJECTIVE: We aimed to compare clinical presentation and risk factors associated with the development of pneumothorax among newborns of different birth weight (BW) categories. METHODS: We collected clinical and respiratory data on all newborns diagnosed with pneumothorax over a 10-year period. Infants were classified into two groups with BW ≥ 2500 g and <2500 g. RESULTS: From 13,811 infants, we identified 77 with pneumothorax (BW ≥ 2500 g in 33 and BW <2500 g in 44 infants). The prevalence of pneumothorax in the two BW categories was 0.27% and 2.5%, respectively. Infants with BW ≥ 2500 g were diagnosed with neumothorax at a median age of 5.5 h, and mostly (70%) did not require intubation. Infants with BW <2500 g were diagnosed with pneumothorax at a median age of 34 h, presenting with hypercarbia and increased requirement for supplemental oxygen. The majority of these infants (89%) received mechanical ventilation after pneumothorax. When compared to matched controls, there was a lower proportion of African-American infants in the pneumothorax group (48% versus 73%, p = 0.029) and a higher rate of bronchopulmonary dysplasia (30% versus 7%, p = 0.004). CONCLUSIONS: Onset, presentation and management of pneumothorax varied according to BW. Preterm infants with pneumothorax are at increased risk for developing bronchopulmonary dysplasia.


Asunto(s)
Recién Nacido de Bajo Peso , Enfermedades del Prematuro , Neumotórax , Peso al Nacer , Displasia Broncopulmonar/etiología , Estudios de Casos y Controles , Presión de las Vías Aéreas Positiva Contínua , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro , Enfermedades del Prematuro/diagnóstico , Enfermedades del Prematuro/etiología , Enfermedades del Prematuro/terapia , Masculino , Análisis por Apareamiento , Neumotórax/diagnóstico , Neumotórax/etiología , Neumotórax/terapia , Factores de Riesgo
6.
Early Hum Dev ; 88(8): 677-81, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22445187

RESUMEN

BACKGROUND: Newborns exposed to oxygen suffer from an oxidative stress with significant alterations in the concentrations of superoxide dismutase (SOD) and glutathione (GSSG). OBJECTIVE: To investigate the biological and clinical effects of oxygen administration to delivering mothers. METHODS: We conducted a randomized, double-blinded, controlled trial on a cohort of delivering women (n=56) with an uncomplicated term pregnancy. Women were randomly assigned to one of two groups: Oxygen group or Room Air group. The Oxygen group received 100% oxygen (2l/min) via nasal cannula for at least 30 min before delivery. Subjects in the Room Air group were connected to a nasal cannula while on room air. Concentrations of SOD (µg/g of Hb) and GSSG (µM/ml) were measured in maternal and umbilical cord blood. Bivariate and multivariate analyses were used to compare the two groups using the SAS system. RESULTS: Maternal SOD and GSSG did not differ between the two groups at baseline or after delivery. Concentrations of SOD and GSSG in umbilical cord blood did not differ between groups. More infants in Oxygen Group required delivery room resuscitation (20% vs. 0%, P=0.03). This difference could not be explained by mode of delivery, infant sex, or other confounders. CONCLUSIONS: Maternal exposure to oxygen during delivery is not associated with changes in umbilical cord SOD or GSSG. Further studies are needed to explore mechanisms responsible for the need of resuscitation in the oxygen group.


Asunto(s)
Sangre Fetal/química , Oxígeno/administración & dosificación , Adulto , Parto Obstétrico/métodos , Método Doble Ciego , Femenino , Glutatión Peroxidasa/sangre , Humanos , Recién Nacido , Masculino , Estrés Oxidativo , Oxígeno/efectos adversos , Embarazo , Superóxido Dismutasa/sangre
9.
Eur J Obstet Gynecol Reprod Biol ; 124(1): 58-60, 2006 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-16051420

RESUMEN

OBJECTIVE: The objective was to investigate the colostral H. pylori-specific IgA content in a sample of the female population in Turkey where a high endemicity for H. pylori has always been reported. MATERIALS AND METHODS: One hundred and sixty-one pregnant women with positive serum H. pylori IgG antibody at the time of the last trimester were enrolled into the study. During the initial postpartum 24h, we obtained colostrum samples from each mother to test the presence and concentration of H. pylori-specific IgA. Breast milk antibody concentrations of H. pylori were measured by commercial ELISA tests. Sample absorbance/cut-off absorbance (s/c) ratio was used for semiquantitative interpretation. Ratios >1.1 were considered positive, ratios < or =1.1 negative. The statistical significance was tested by the Mann-Whitney U-test, and p < 0.05 was regarded as statistically significant. RESULTS: At least 2 ml of colostrum was obtained and analyzed (mean volume 2.5+/-0.45 ml). The results indicated the absence of H. pylori-specific IgA in 64 colostral samples (39.8%). However, the rest of the women (n = 97; 60.2%) had a mean H. pylori-specific IgA s/c ratio of 4.31+/-2.51 (range 1.2-10.3) in their colostral milk samples. The mean gestational age at the time of delivery was 38 weeks and 5 days, and the mean birth weight was 3, 224+/-433 g (range 4, 300-1, 940 g). Gestational age at birth and mode of delivery were not correlated with the colostral-specific IgA levels. CONCLUSIONS: Most of the lactating women (60.2%), who were seropositive for H. pylori, had some IgA in their colostral milk. Colostral milk theoretically can decrease H. pylori and perhaps many other enteric infections, whether or not it contains H. pylori-specific IgA. Therefore, breastfeeding is of utmost importance for neonates and should be encouraged. The H. pylori-specific IgA antibody concentration of colostral milk should be investigated in large-scale prospective studies for its effectiveness in the protection against neonatal transmission of this infection.


Asunto(s)
Calostro/inmunología , Infecciones por Helicobacter/inmunología , Helicobacter pylori/inmunología , Inmunoglobulina A/análisis , Lactancia/inmunología , Complicaciones Infecciosas del Embarazo/inmunología , Adolescente , Adulto , Femenino , Humanos , Embarazo
10.
Allergy Asthma Proc ; 26(3): 204-6, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-16119035

RESUMEN

In asthmatic children inhaled corticosteroids are widely used. However, there are some concerns about the systemic adverse effects of these drugs, especially in the growing child. We performed this prospective study in order to compare the effects of 400 microg/day of budesonide (BUD) and 250 microg/day of fluticasone propionate (FP) on growth in prepubertal (aged 4-11.5 years), moderate persisting asthmatic children. One hundred patients (51 boys and 49 girls), who were randomized into two groups, were recruited for the study. The first group was treated with BUD, 2X 200 microg/day, and the second group was treated with FP, 2X 125 microg/day, by using a medium-size volume-spacer metered-dose inhaler. Growth in children with asthma who were treated by inhaled corticosteroids was calculated by growth velocity over a 12-month period. Comparisons between treatment groups were calculated by t-test and chi-square test. There were no significant differences between BUD and FP groups for sex, age, first height, and growth velocity. Moderate persisting, prepubertal asthmatic children treated with 250 microg/day of FP appeared to have no different linear growth than those children who received 400 microg/day of BUD.


Asunto(s)
Androstadienos/efectos adversos , Antiinflamatorios/efectos adversos , Asma/fisiopatología , Estatura/efectos de los fármacos , Budesonida/efectos adversos , Administración por Inhalación , Androstadienos/administración & dosificación , Antiinflamatorios/administración & dosificación , Asma/tratamiento farmacológico , Budesonida/administración & dosificación , Niño , Preescolar , Femenino , Fluticasona , Estudios de Seguimiento , Humanos , Masculino , Inhaladores de Dosis Medida , Estudios Prospectivos
12.
Pediatr Pulmonol ; 39(3): 251-6, 2005 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-15668932

RESUMEN

Our objective was to investigate the prevalence of sleep-disordered breathing (SDB) and obstructive sleep apnea syndrome (OSAS) in 3-11-year-old Turkish children. A cross-sectional study was conducted in Zonguldak, northwestern Turkey. Symptomatic children were identified by using a self-administered questionnaire and were classified into three groups: nonsnorers, occasional snorers, and habitual snorers. All habitual snoring children were invited to undergo polysomnography (PSG). Nine hundred fifty-four children (79.5%) were nonsnorers, 205 (17.2%) were occasional snorers, and 39 (3.3%) were habitual snorers. There was no significant relationship between gender and habitual snoring (male, 3.4%; female, 3.1%; P > 0.05; odds ratio (OR), 1.13; 95% confidence interval (CI), 0.59-2.14). There was a statistically significant relationship between habitual snoring and allergic rhinitis (OR, 4.23; 95% CI, 2.14-8.35). Four children who snored every night, and who had apnea spells and/or troubled sleep, underwent adenoidectomy and/or tonsillectomy before polysomnographic evaluation because of clinical detoriation. Twenty-eight of 39 children with habitual snoring participated in PSG evaluation. PSG revealed that 11 children (0.9% of the total population) had OSAS. When 4 operated children were added to these 28 children, we found the minimum prevalence of OSAS to be 1.3% in our study group. There was a significant correlation between OSAS and troubled sleeping (P <0.001; OR, 4.37; 95% CI, 1.33-14.3). We found the prevalence of habitual snoring to be 3.3% in Turkish children by using self-administered questionnaires. Allergic rhinitis was significantly correlated with habitual snoring. Minimum estimated prevalence of OSAS was found to be 1.3%.


Asunto(s)
Apnea Obstructiva del Sueño/epidemiología , Distribución por Edad , Causalidad , Niño , Preescolar , Comorbilidad , Estudios Transversales , Femenino , Encuestas Epidemiológicas , Humanos , Modelos Logísticos , Masculino , Respiración por la Boca/epidemiología , Obesidad/epidemiología , Oportunidad Relativa , Polisomnografía , Prevalencia , Rinitis Alérgica Perenne/epidemiología , Distribución por Sexo , Apnea Obstructiva del Sueño/diagnóstico , Ronquido/epidemiología , Turquía/epidemiología
13.
Allergy Asthma Proc ; 26(5): 397-402, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-16450575

RESUMEN

Prevalence of asthma and other allergic diseases varies between different regions throughout the world. The aim of this study was to determine the prevalence of asthma and allergies and some risk factors for asthma in schoolchildren, aged between 6 and 16 years old, in Zonguldak, Turkey. We prepared 1500 questionnaires according to the International Study of Asthma and Allergies in Childhood criteria and distributed them in schools, to be completed at home by parents. Appropriately completed 1349 questionnaires, including complementary questions for risk factors, were taken into consideration. Data for air-pollutant levels of sulfurdioxide (SO2) and total suspended particles were obtained also. The prevalence of current wheezing symptoms was 9.6% in children aged between 13 and 16 years old and 11.2% in the total sample. In terms of physician-diagnosed asthma, allergic rhinitis, and eczema, the prevalences were 4.9, 37.7, and 13.2%, respectively. A family history of allergy, diagnosis, or symptoms of allergic rhinitis and bronchitis (age range, 6-9 years) and male gender were found to be significant predictors for asthma symptoms with adjusted odds ratios of 2.089, 0.336, 4.707, 1.652, and 0.599, respectively. Strongly positive correlation between number of symptomatic asthmatic patients and air pollution levels for SO2 (r = 0.864; p = 0.001) and total suspended particles (r = 0.891; p = 0.001) were observed also. The prevalence of asthma is high in Zonguldak, Turkey, and there is a strong correlation between air pollution and asthma symptoms. Allergy in the first-degree relatives, diagnosis of bronchitis and allergic rhinitis, age, and male gender are more important than the other factors in predicting asthma.


Asunto(s)
Asma/epidemiología , Asma/etiología , Hipersensibilidad/epidemiología , Hipersensibilidad/etiología , Salud Urbana , Adolescente , Contaminación del Aire/efectos adversos , Niño , Femenino , Humanos , Masculino , Prevalencia , Factores de Riesgo , Factores Socioeconómicos , Encuestas y Cuestionarios , Turquía/epidemiología
14.
Clin Dysmorphol ; 14(1): 7-11, 2005 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-15602086

RESUMEN

In the course of evaluating a 17 months old boy with waddling gait and swollen joints, we found generalized, severe ossification defects in the metaphyses of his long bones. The differential diagnosis included nutritional or genetic rickets, metaphyseal dysplasia, and enchondrodysplasia. Calcium, phosphate and alkaline phosphatase were normal, while targeted analysis of urinary organic acids repeatedly revealed excretion of 2-hydroxy-glutaric acid. Thus, this child appears to have an unusual combination of findings described in just two other patients so far, a girl and a boy, and called 'spondyloenchondrodysplasia with D-2-hydroxy-glutaric aciduria'. These three cases are similar in terms of severe metaphyseal lesions, mild vertebral involvement, and presence of 2-hydroxy-glutaric acid in the urine. We consider this a radiographically and biochemically distinct entity, for which we suggest the name of 'metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria'.


Asunto(s)
Glutaratos/orina , Osteocondrodisplasias/fisiopatología , Humanos , Lactante , Masculino , Caminata
16.
Ann Trop Paediatr ; 24(1): 25-31, 2004 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-15005963

RESUMEN

The incidence and outcome of gallbladder and urinary tract complications in children receiving ceftriaxone therapy were evaluated prospectively. The subjects were given intravenous ceftriaxone, 100 mg/kg/day, in two divided doses infused over 20-30-minute periods, for 5-14 days. Serial abdominal ultrasonography revealed gallbladder and urinary tract precipitations in five of 35 children, three of whom had gallbladder pseudolithiasis, one gallbladder sludge and one gallbladder pseudolithiasis and urinary bladder sludge. The children who had gallbladder sludge and gallbladder pseudolithiasis with urinary bladder sludge had abdominal pain, nausea and vomiting. Three children remained symptom-free. The gallbladder precipitations were found after 4-9 days of ceftriaxone therapy, and resolved completely 7-19 days after the end of treatment. The urinary tract precipitation was found on the 5th day after cessation of ceftriaxone therapy and resolved 7 days later. Ceftriaxone-associated gallbladder pseudolithiasis, gallbladder sludge and urinary bladder sludge usually resolve spontaneously and physicians should be aware of these complications so as to avoid unnecessary therapeutic procedures.


Asunto(s)
Antibacterianos/efectos adversos , Ceftriaxona/efectos adversos , Enfermedades de la Vesícula Biliar/inducido químicamente , Enfermedades Urológicas/inducido químicamente , Adolescente , Antibacterianos/administración & dosificación , Infecciones Bacterianas/tratamiento farmacológico , Cálculos/inducido químicamente , Cálculos/diagnóstico por imagen , Ceftriaxona/administración & dosificación , Niño , Preescolar , Femenino , Enfermedades de la Vesícula Biliar/diagnóstico por imagen , Humanos , Lactante , Infusiones Intravenosas , Litiasis/inducido químicamente , Litiasis/diagnóstico por imagen , Masculino , Estudios Prospectivos , Factores de Tiempo , Ultrasonografía , Enfermedades Urológicas/diagnóstico por imagen
17.
J Pediatr Endocrinol Metab ; 17(1): 73-6, 2004 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-14960024

RESUMEN

We evaluated goiter status and urinary iodine excretion (UIC) of 304 school-children (7-12 years old) 3 years after a law was passed for mandatory production of iodinated salt in an area previously characterized by severe iodine deficiency in Zonguldak, a mountainous city in the West Black Sea region in Turkey. We examined all the children for goiter by palpation, measured sonographic thyroid volumes (STV) and UIC. Eighty-two percent of families had been using iodinated salt. UIC was above 100 microg/l in 71.2% of the children and median UIC was sufficient (143.5 microg/l). The prevalence of goiter was lower at ultrasound (14.6%) than by palpation (19.4%). Median STV values were within recommended normal limits at all ages. Although Zonguldak had been a highly endemic region, it became mildly endemic 3 years after mandatory iodination of salt, with decrease of goiter prevalence.


Asunto(s)
Bocio/epidemiología , Bocio/prevención & control , Yodo , Yodo/deficiencia , Yodo/uso terapéutico , Cloruro de Sodio Dietético , Niño , Protección a la Infancia , Femenino , Humanos , Yodo/orina , Masculino , Prevalencia , Glándula Tiroides/anatomía & histología , Glándula Tiroides/diagnóstico por imagen , Turquía , Ultrasonografía
18.
Pediatr Radiol ; 34(2): 160-2, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-14534755

RESUMEN

Isovaleric acidaemia is an inborn error of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase, which results in accumulation of isovaleric acid in body fluids. There are acute and chronic-intermittent forms of the disease. We present the cranial CT and MRI findings of a 19-month-old girl with the chronic-intermittent form of isovaleric acidaemia. She presented with severe metabolic acidosis, hyperglycaemia, glycosuria, ketonuria and acute encephalopathy. Cranial CT revealed bilateral hypodensity of the globi pallidi. MRI showed signal changes in the globi pallidi and corticospinal tracts of the mesencephalon, which were hypointense on T1-weighted and hyperintense on T2-weighted images.


Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico por imagen , Errores Innatos del Metabolismo de los Aminoácidos/patología , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Leucina/metabolismo , Imagen por Resonancia Magnética , Ácidos Pentanoicos/sangre , Tomografía Computarizada por Rayos X , Errores Innatos del Metabolismo de los Aminoácidos/metabolismo , Femenino , Hemiterpenos , Humanos , Lactante , Isovaleril-CoA Deshidrogenasa , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/deficiencia
19.
Artículo en Inglés | MEDLINE | ID: mdl-15841804

RESUMEN

Robinow syndrome (also named "fetal face syndrome") includes a series of anomalies including mesomelic brachymelia, bifid terminal phalanges of the hands and feet, abnormalities of vertebrae and ribs, and hypoplastic external genitalia. A midline cleft of the lower lip and mandible is an extremely rare maxillofacial deformity. Seventy cases have so far been described to our knowledge. We report a patient with Robinow syndrome and midline cleft of the lower lip and mandible and describe the reconstruction of these anomalies. We propose that this anomaly should be added to the range of malformations associated with the syndrome.


Asunto(s)
Labio Leporino , Facies , Genitales Masculinos/anomalías , Niño , Labio Leporino/epidemiología , Humanos , Masculino , Mandíbula/anomalías , Síndrome
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