Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review.

OBJECTIVE: To evaluate genetic testing utilization and diagnostic yield in infants with esophageal atresia (EA)/tracheoesophageal fistula (TEF) over the past 12 years to inform future practices and individualize prognostication and management. STUDY DESIGN: A retrospective cohort study was performed for all infants with EA or EA/TEF hospitalized between January 2011 and January 2023 at a quaternary children's hospital. For each infant, demographic information, prenatal and postnatal history, and genetic testing were reviewed. RESULTS: There were 212 infants who were classified as follows: 1) complex/syndromic with EA/TEF plus an additional major anatomic anomaly (n = 114, of which 74 met VACTERL criteria); 2) isolated/nonsyndromic EA/TEF (n = 88) and 3) isolated/nonsyndromic EA (n = 10). A range of genetic tests were sent with varying diagnostic rates including karyotype analysis in 12 (all with complex/syndromic phenotypes and all positive), chromosomal microarray analysis in 189 (114 of whom were complex/syndromic with an overall diagnostic rate of 3/189), single gene testing for CHD7 in 18 (4 positive), and exome analysis in 37 complex/syndromic patients (8 positive). CONCLUSIONS: EA/TEF with and without additional anomalies is genetically heterogeneous with a broad range of associated phenotypes. While the genetic etiology of EA/TEF with or without VACTERL remains largely unknown, genome wide testing (exome or genome) including copy number analysis is recommended over chromosomal microarray testing. We anticipate that expanded genetic/genomic testing modalities such as RNA sequencing and tissue specific molecular testing are needed in this cohort to improve our understanding of the genomic contributors to EA/TEF.

Risk Factors of Early Mortality and Morbidity in Esophageal Atresia with Distal Tracheoesophageal Fistula: A Population-Based Cohort Study.

OBJECTIVE: To identify the risk factors for early mortality and morbidity in a population with distal esophageal atresia (EA)-tracheoesophageal fistula. STUDY DESIGN: Cohort study from a national register. Main outcomes and measures included early mortality, hospital length of stay (LoS), need for nutritional support at 1 year of age as a proxy measure of morbidity, and complications during the first year of life. RESULTS: In total, 1008 patients with a lower esophageal fistula were included from January 1, 2008, to December 31, 2014. The survival rate at 3 months was 94.9%. The cumulative hospital LoS was 31.0 (17.0-64.0) days. Multivariate analysis showed that intrahospital mortality at 3 months was associated with low birth weight (OR 0.52, 95% CI [0.38-0.72], P < .001), associated cardiac abnormalities (OR 6.09 [1.96-18.89], P = .002), and prenatal diagnosis (OR 2.96 [1.08-8.08], P = .034). LoS was associated with low birth weight (-0.225 ± 0.035, P < .001), associated malformations (0.082 ± 0.118, P < .001), surgical difficulties (0.270 ± 0.107, P < .001), and complications (0.535 ± 0.099, P < .001) during the first year of life. Predictive factors for dependency on nutrition support at 1 year of age were complications before 1 year (OR 3.28 [1.23-8.76], P < .02) and initial hospital LoS (OR 1.96 [1.15-3.33], P < .01). CONCLUSIONS: EA has a low rate of early mortality, but morbidity is high during the first year of life. Identifying factors associated with morbidity may help to improve neonatal care of this population.

Características clínico-quirúrgicas de la atresia esofágica en el Instituto Nacional de Salud del Niño San Borja, Lima, Perú. 2015-2017 / Clinical-surgical characteristics of esophageal atresia in the National Institute of Children's Health San Borja, Lima, Peru. 2015-2017

RESUMEN Objetivo : Describir las características clínico-quirúrgicas y sociodemográficas de pacientes con atresia esofágica (AE) del Instituto Nacional de Salud del Niño San Borja (INSN-SB) 2015-2017. Material y métodos : Estudio observacional descriptivo de casos con AE 2015-2017. Los datos se procesaron y analizaron en el programa SPSS v20, las variables cualitativas fueron expresadas en frecuencias absolutas y relativas. Resultados : Se analizaron 74 casos con AE, 55,4% (n=41) fueron de sexo masculino. Según edad gestacional 45 a término, 28 pre-término y un post-término. El 59,5% tuvieron peso adecuado al nacer. 28,4% tuvieron control prenatal (CPN) completo y 68,9% no tuvieron diagnóstico prenatal de AE. La atresia con fistula traqueo-esofágica (FTE) distal fue la más frecuente con 74,3% (n=55). Se presentó sialorrea en 55 pacientes (74,3%) y disnea en 54 (72,9%). Predominaron las malformaciones cardiacas en el 27,1%, seguida por digestivas 20,3% y genitourinarias 17,6%. Solo 26 tuvieron síndromes asociados, VACTERL en 12 casos. La anastomosis termino-terminal y cierre de fistula se realizó en 55 pacientes (74,3%). 48 presentaron complicaciones tempranas, predominando sepsis (20,3%) y 46 complicaciones tardías, siendo reflujo gastroesofágico el más frecuente 29,7%. La mortalidad fue 10,8%. Conclusiones : La mayoría fue de sexo masculino, a término, con adecuado peso al nacer y sin CPN. La AE con FTE distal fue la más frecuente. Sialorrea y disnea fueron los síntomas predominantes y malformaciones cardiacas y digestivas las más asociadas. La anastomosis término-terminal y cierre de fístula fue la técnica más frecuente, como complicaciones sepsis y reflujo gastroesofágico. La mortalidad fue baja.

ABSTRACT Objective : Describe the clinical-surgical and sociodemographic characteristics of patients with esophageal atresia (EA) of the Instituto Nacional de Salud del Niño San Borja (INSN-SB) during 2015-2017. Material and methods : Descriptive observational study of cases with EA 2015-2017. The data was processed and analyzed in the SPSS v20 program, the absolute and relative frequency distributions were expressed in tables. Results : 74 cases with AE were analyzed, 55.4% (n=41) were male. According to gestational age, 45 were at term, 28 pre-term and one post-term. 59.5% had adequate weight at birth. Only 28.4% had complete prenatal care (CPN). 68.9% did not have a prenatal diagnosis of AE. Atresia with distal tracheoesophageal fistula (TEF) was the most frequent in 74.3% (n=55). Hypersalivation occurred in 55 patients (74.3%), followed by dyspnea in 54 (72.9%). Cardiac malformations predominated in 27.1%, followed by digestive 20.3% and genitourinary 17.6%. Only 26 had associated syndromes, VACTERL in 12 cases. End-to-end anastomosis and fistula closure were performed in 55 patients (74.3%). 48 presented early complications, predominating sepsis (20.3%) and 46 late complications, with gastroesophageal reflux being the most frequent 29.7%. Regarding mortality, 8 (10.8%) died. Conclusions : Most of the cases were male, at term, with adequate weight at birth and without CPN. AE with distal TEF was the most frequent. Sialorrhea and dyspnea were the predominant symptoms and cardiac and digestive malformations the most associated. End-to-end anastomosis surgery and fistula closure was the most frequent technique. Complications were sepsis and gastroesophageal reflux. Mortality was low.

[Clinical-surgical characteristics of esophageal atresia in the National Institute of Children's Health San Borja, Lima, Peru. 2015-2017]. / Características clínico-quirúrgicas de la atresia esofágica en el Instituto Nacional de Salud del Niño San Borja, Lima, Perú. 2015-2017.

OBJECTIVE: Describe the clinical-surgical and sociodemographic characteristics of patients with esophageal atresia (EA) of the Instituto Nacional de Salud del Niño San Borja (INSN-SB) during 2015-2017. MATERIAL AND METHODS: Descriptive observational study of cases with EA 2015-2017. The data was processed and analyzed in the SPSS v20 program, the absolute and relative frequency distributions were expressed in tables. RESULTS: 74 cases with AE were analyzed, 55.4% (n=41) were male. According to gestational age, 45 were at term, 28 pre-term and one post-term. 59.5% had adequate weight at birth. Only 28.4% had complete prenatal care (CPN). 68.9% did not have a prenatal diagnosis of AE. Atresia with distal tracheoesophageal fistula (TEF) was the most frequent in 74.3% (n=55). Hypersalivation occurred in 55 patients (74.3%), followed by dyspnea in 54 (72.9%). Cardiac malformations predominated in 27.1%, followed by digestive 20.3% and genitourinary 17.6%. Only 26 had associated syndromes, VACTERL in 12 cases. End-to-end anastomosis and fistula closure were performed in 55 patients (74.3%). 48 presented early complications, predominating sepsis (20.3%) and 46 late complications, with gastroesophageal reflux being the most frequent 29.7%. Regarding mortality, 8 (10.8%) died. CONCLUSIONS: Most of the cases were male, at term, with adequate weight at birth and without CPN. AE with distal TEF was the most frequent. Sialorrhea and dyspnea were the predominant symptoms and cardiac and digestive malformations the most associated. End-to-end anastomosis surgery and fistula closure was the most frequent technique. Complications were sepsis and gastroesophageal reflux. Mortality was low.

Gastrointestinal disorders in Down syndrome.

Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to determine the prevalence of gastrointestinal disorders at a Down syndrome outpatient clinic during a 10-year follow-up period. Data from medical files were retrospectively reviewed from 1,207 patients. Gastrointestinal changes occurred in 612 (50.7%). The most prevalent disorder was chronic intestinal constipation. Intestinal parasite occurred in 22% (mainly giardiasis), gastroesophageal reflux disease in 14%, digestive tract malformations occurred in 5%: 13 cases of duodenal atresia, 8 of imperforate anus, 4 annular pancreases, 2 congenital megacolon, 2 esophageal atresias, 2 esophageal compression by anomalous subclavian and 1 case of duodenal membrane. We had 38/1,207 (3.1%) patients with difficulty in sucking and only three with dysphagia that resolved before the second year of life. Peptic ulcer disease, celiac disease, and biliary lithiasis were less prevalent with 3% each. Awareness of the high prevalence of gastrointestinal disorders promotes outstanding clinical follow-up as well as adequate development and greater quality of life for patients with Down syndrome and their families.

Eosinophilic esophagitis and esophageal atresia: coincidence or causality? / Esofagitis eosinofílica y atresia esofágica: ¿casualidad o causalidad?

Eosinophilic esophagitis is an immune-mediated chronic disease of the esophagus characterized by symptoms related to esophageal dysfunction and tissue eosinophilia. In the endoscopy, the esophageal mucosa may appear normal or show exudates, rings, edema, furrows, and strictures. Its management is based on elimination diet, topical corticosteroids and/or esophageal dilation. Atresia is the most common congenital alteration of the esophagus; it requires surgical repair and poses potential complications, such as gastroesophageal reflux, strictures, and esophageal dysmotility. Up to 2015, 48 cases of eosinophilic esophagitis and esophageal atresia were reported, with dysmotility, reflux, and long-term acid suppression involvement. Prevalent clinical signs include dysphagia, difficulty eating, and reflux symptoms, so an esophagogastroduodenoscopy with biopsy is recommended to rule out associated eosinophilic esophagitis in patients with esophageal atresia and persistent symptoms before performing an esophageal dilation and/or anti-reflux surgery. If eosinophilic esophagitis is confirmed, it should be managed with the corresponding drugs, and the subsequent therapeutic approach will depend on its clinical course.

La esofagitis eosinofílica es una enfermedad crónica del esófago, inmunomediada, caracterizada por síntomas de disfunción esofágica y eosinofilia tisular. Endoscópicamente, la mucosa esofágica puede ser normal o tener exudados, anillos, edema, surcos y estenosis. El tratamiento se basa en dieta de exclusión, corticoterapia tópica y/o dilatación esofágica. La atresia es la alteración congénita más frecuente del esófago, requiere corrección quirúrgica con posibles complicaciones, como reflujo gastroesofágico, estenosis y dismotilidad esofágica. Hasta el año 2015, fueron comunicados 48 casos de esofagitis eosinofílica en atresia esofágica, en los que tuvo participación la dismotilidad, el reflujo y la supresión ácida prolongada. Clínicamente, predominan la disfagia, las dificultades en la alimentación y los síntomas de reflujo, por tanto, se sugiere la endoscopía digestiva alta con biopsias para descartar esofagitis eosinofílica asociada en pacientes con atresia esofágica y síntomas persistentes antes de realizar dilatación esofágica y/o cirugía antirreflujo. Si se confirma esofagitis eosinofílica, debe tratarse con medicación apropiada y subsiguientes conductas terapéuticas dependerán de su evolución.

Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient.

Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling.

The association between laryngeal cleft and tracheoesophageal fistula: myth or reality?

OBJECTIVES/HYPOTHESIS: Laryngeal cleft (LC) associated with tracheoesophageal fistula (TEF) with or without esophageal atresia (EA) has rarely been described. The purpose of this study is to review our experience, clinical features, management, delay in diagnosis, and complications in children with these anomalies. STUDY DESIGN: Retrospective chart review at pediatric tertiary referral center. METHODS: Patients diagnosed with LC alone or LC and TEF over a 10-year period were included. Data including demographics, type of TEF and LC, comorbidities, symptoms, management, complications and swallowing outcomes were analyzed. RESULTS: There were 161 pediatric patients diagnosed with LC alone and 22 with LC and TEF. In patients with LC and TEF, aspiration was the most common presenting symptom (n = 11, 50%). Seventeen patients (77%, mean age 4 years 7 months) underwent endoscopic repair and five patients (23%) with type I clefts did not require surgery. Two patients required revision surgery. For patients with LC alone, the mean age at repair was 3.70 years (4 months-19.9 years) compared to 4.69 years (8 months-17.83 years) for patients with LC and TEF (P = 0.0187). The postoperative swallowing studies from 15 patients showed no aspiration. Mean follow-up was 4 years and 6 months. CONCLUSION: The diagnosis and management of LC in patients with TEF is often delayed. If a child presents with persistent aspiration after TEF repair, a complete airway endoscopy should be performed to evaluate for vocal fold mobility and cleft. Endoscopic repair is the recommended approach for those patients requiring surgical intervention. LEVEL OF EVIDENCE: 4.

Caracterización de pacientes con atresia esofágica / Characterization of Patients with Esophageal Atresia

Antecedentes: La atresia de esófago (AE) es la anomalía congénita del esófago más impor- tante, tiene una incidencia mundial de 1:3500 nacidos vivos. A nivel mundial la mortalidad es de 10% pero en países cercanos como Costa Rica es del 16%. Objetivo: Identificar las carac- terísticas de los pacientes con AE atendidos en el Hospital Mario Catarino Rivas. Pacientes y métodos: Se realizó un estudio de tipo descriptivo, transversal en el Hospital Nacional Dr. Mario Catarino Rivas (HNMCR). Se obtuvo la información del expediente clínico. Se incluye- ron en el estudio los 23 recién nacidos con diagnóstico de AE que se atendieron en el área de Emergencia de Pediatría y sala de Cuidados Intensivos Neonatales del período de enero del 2013 a agosto del 2014. Resultados: El 78% de los niños con AE fueron varones (n=18). El 70% (n=16) de las madres realizó adecuado control prenatal y el 35% (n=8) se realizó ultrasonido (USG). Se realizó el diagnóstico entre las 24-48 horas en el 57% de los pacientes (n=13). 74% (n=17) nacieron a término. El tipo de atresia más frecuente fue el tipo III en 15 niños (65%). Fallecieron 19 de los niños (82%). Conclusio- nes: En nuestro sistema de salud la tasa de supervivencia a una AE es baja, y el control prenatal no aporta relevancia para el diagnósti- co de esta patología...(AU)

Anomalías congénitas asociadas a la atresia esofágica / Esophageal atressia-associated congenital anomalies

Introducción: la atresia esofágica se presenta en 1 de cada 3 000 a 4 500 neonatos vivos. Existe un ligero predominio en los varones, aunque esto no es un hallazgo universal y tal vez no sea cierto para todas las variedades. Con el aumento en la supervivencia de estos niños operados de atresia esofágica, las anomalías asociadas han adquirido mayor significación; más de la mitad de estos tienen una o más anomalías acompañantes. Objetivo: caracterizar las anomalías asociadas a esta entidad. Métodos: se realizó un estudio observacional descriptivo transversal de todos los casos diagnosticados de atresia esofágica con o sin fístula traqueoesofágica, en el periodo comprendido desde enero de 2000 hasta diciembre de 2011, en el Hospital Pediátrico Docente Provincial José Luis Miranda de Santa Clara, Cuba. Resultados: predominaron las anomalías congénitas cardiovasculares, seguido de las malformaciones digestivas y respiratorias. La anomalía asociada más frecuente, junto a la comunicación interatrial, fue la malformación anorrectal. Hubo 1 caso de atresia duodenal, así como otro de agenesia diafragmática. No hubo asociaciones, y la única trisomía presentada fue una 21. Los pacientes con anomalías congénitas no cardiovasculares tienen 2,1 veces más probabilidades de morir, que los que no se asocian a este tipo de anomalías. La mortalidad global en esta serie fue del 46,9 por ciento. Conclusiones: la presencia de una anomalía congénita eleva la mortalidad en estos pacientes, sobre todo, las no cardiovasculares mayores y las cardiovasculares críticas(AU)

Introduction: esophageal atresia occurs in one out of 3 000 or 4 500 livebirths. Males are slightly predominant, but this is not a universal finding and maybe it is not valid for all varieties. With increasing survival rates of children operated on from esophageal atresia, the associated anomalies have become more significant since more than half of these children suffer one or more accompanying anomalies. Objective: to characterize the esophageal atresia-associated anomalies. Methods: an observational, cross-sectional and descriptive study of all the cases diagnosed with esophageal atresia, with or without tracheal esophageal fistula, from January 2000 to December 2011 was conducted in José Luis Miranda provincial pediatric teaching hospital in Santa Clara, Villa Clara province, Cuba. Resultados: congenital cardiovascular anomalies were prevailing, followed by digestive and respiratory malformations. The most frequent one, together with interatrial communication, was anorectal malformation. There was a case of duodenal atresia as well as another case of diaphragmatic agenesis. There was no association between them. The patients with non-cardiovascular congenital anomalies are 2.1 times more likely to die than those unrelated to this type of anomaly. The global mortality rate for this series was 46.9 percent. Conclusions: the existence of congenital anomaly raises the mortality likelihood for these patients, mainly in cases of major non-cardiovascular and critical cardiovascular anomalies(AU)

Anomalías congénitas asociadas a la atresia esofágica / Esophageal atressia-associated congenital anomalies

Introducción: la atresia esofágica se presenta en 1 de cada 3 000 a 4 500 neonatos vivos. Existe un ligero predominio en los varones, aunque esto no es un hallazgo universal y tal vez no sea cierto para todas las variedades. Con el aumento en la supervivencia de estos niños operados de atresia esofágica, las anomalías asociadas han adquirido mayor significación; más de la mitad de estos tienen una o más anomalías acompañantes. Objetivo: caracterizar las anomalías asociadas a esta entidad. Métodos: se realizó un estudio observacional descriptivo transversal de todos los casos diagnosticados de atresia esofágica con o sin fístula traqueoesofágica, en el periodo comprendido desde enero de 2000 hasta diciembre de 2011, en el Hospital Pediátrico Docente Provincial José Luis Miranda de Santa Clara, Cuba. Resultados: predominaron las anomalías congénitas cardiovasculares, seguido de las malformaciones digestivas y respiratorias. La anomalía asociada más frecuente, junto a la comunicación interatrial, fue la malformación anorrectal. Hubo 1 caso de atresia duodenal, así como otro de agenesia diafragmática. No hubo asociaciones, y la única trisomía presentada fue una 21. Los pacientes con anomalías congénitas no cardiovasculares tienen 2,1 veces más probabilidades de morir, que los que no se asocian a este tipo de anomalías. La mortalidad global en esta serie fue del 46,9 por ciento. Conclusiones: la presencia de una anomalía congénita eleva la mortalidad en estos pacientes, sobre todo, las no cardiovasculares mayores y las cardiovasculares críticas

Introduction: esophageal atresia occurs in one out of 3 000 or 4 500 livebirths. Males are slightly predominant, but this is not a universal finding and maybe it is not valid for all varieties. With increasing survival rates of children operated on from esophageal atresia, the associated anomalies have become more significant since more than half of these children suffer one or more accompanying anomalies. Objective: to characterize the esophageal atresia-associated anomalies. Methods: an observational, cross-sectional and descriptive study of all the cases diagnosed with esophageal atresia, with or without tracheal esophageal fistula, from January 2000 to December 2011 was conducted in José Luis Miranda provincial pediatric teaching hospital in Santa Clara, Villa Clara province, Cuba. Resultados: congenital cardiovascular anomalies were prevailing, followed by digestive and respiratory malformations. The most frequent one, together with interatrial communication, was anorectal malformation. There was a case of duodenal atresia as well as another case of diaphragmatic agenesis. There was no association between them. The patients with non-cardiovascular congenital anomalies are 2.1 times more likely to die than those unrelated to this type of anomaly. The global mortality rate for this series was 46.9 percent. Conclusions: the existence of congenital anomaly raises the mortality likelihood for these patients, mainly in cases of major non-cardiovascular and critical cardiovascular anomalies

Current knowledge on esophageal atresia.

Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is the most common congenital anomaly of the esophagus. The improvement of survival observed over the previous two decades is multifactorial and largely attributable to advances in neonatal intensive care, neonatal anesthesia, ventilatory and nutritional support, antibiotics, early surgical intervention, surgical materials and techniques. Indeed, mortality is currently limited to those cases with coexisting severe life-threatening anomalies. The diagnosis of EA is most commonly made during the first 24 h of life but may occur either antenatally or may be delayed. The primary surgical correction for EA and TEF is the best option in the absence of severe malformations. There is no ideal replacement for the esophagus and the optimal surgical treatment for patients with long-gap EA is still controversial. The primary complications during the postoperative period are leak and stenosis of the anastomosis, gastro-esophageal reflux, esophageal dysmotility, fistula recurrence, respiratory disorders and deformities of the thoracic wall. Data regarding long-term outcomes and follow-ups are limited for patients following EA/TEF repair. The determination of the risk factors for the complicated evolution following EA/TEF repair may positively impact long-term prognoses. Much remains to be studied regarding this condition. This manuscript provides a literature review of the current knowledge regarding EA.

Esophageal atresia: new guidelines in management.

Esophageal atresia is the most common congenital anomaly of the esophagus in newborns. This review article discusses the incidence, embryological classification, diagnosis and associated anomalies of esophageal atresia. Emphasis is placed in the current guidelines of standard surgical management of this congenital condition.

Atresia de esôfago / Esophageal atresia

Os autores fazem uma revisão sobre atresia de esôfago, sua etiologia, diagnostico, tratamento e complicações. O uso de dreno extra pleural no pós-operatório foi avaliado através de uma revisão dos casos operados no Hospital São Lucas da PUCRS entre 2003 e 2008.

Diafragma duodenal congénito. Una forma de obstrucción intestinal / Congenital duodenal diaphragm: a kind of intestinal obstruction

Las anomalías congénitas que causan obstrucción intestinal incompleta como estenosis, membranas, duplicaciones, malrotación, bandas peritoneales, aganglionosis, etc., pueden no manifestarse hasta más tarde en la vida. Se presenta un paciente de catorce meses, masculino, con historia de vómitos frecuentes desde el nacimiento, en ocasiones biliosos, ahora con distensión abdominal. La cirugía demostró un diafragma duodenal fenestrado. Se realizan algunas consideraciones de interés...(AU)

Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.

The clinical combination of anophthalmia/microphthalmia and esophageal atresia was first recognized in 1988 as a distinct variable multi-system malformation syndrome and since then at least 17 cases of the disease have been described, all of them sporadic in occurrence. We report a heterozygous SOX2 gene mutation underlying the syndrome of anophthalmia/microphthalmia-esophageal atresia and demonstrate that this entity can be associated to considerable clinical variability as shown by the discordant ocular phenotype observed in monozygotic twin brothers carrying an SOX2 deletion. This is the first report describing a strikingly discordant eye phenotype in monozygotic twins with the condition, with one of our patients being the first reported individual carrying an SOX2 lesion associated with unilateral eye defect. We discuss the probable sources for this remarkable phenotypic heterogeneity of the anophthalmia/microphthalmia syndrome in individuals with an identical genetic constitution.

Atresia do trato gastrintestinal: avaliação por métodos de imagem / Atresia of the gastrointestinal tract: imaging evaluation

Um amplo espectro de anomalias congênitas pode afetar qualquer nível do trato gastrintestinal, do esôfago ao ânus. A atresia é uma importante causa de obstrução gastrintestinal, com alta taxa de morbidade em recém-natos. Há diversos mecanismos patológicos possíveis para explicar esta malformação e duas explicações clássicas de sua gênese são um defeito de recanalização do tubo intestinal ou uma interrupção no suprimento sanguíneo durante a vida intra-uterina. Os autores fazem uma revisão da literatura com ensaio iconográfico dos achados de imagem em crianças com atresia do trato gastrintestinal.