A case of amniotic band syndrome after fetal reduction by radiofrequency ablation / 中华围产医学杂志

This article reported a survived case of amniotic band syndrome (ABS) following fetal reduction by radiofrequency ablation. The woman conceived monochorionic diamniotic twin pregnancy spontaneously. Prenatal ultrasound at 24 weeks of gestation indicated twin-twin transfusion syndrome (stage Ⅲ), and radiofrequency ablation for fetal reduction was successfully performed after formal consent. At 28 +6 weeks, ultrasound reexamination revealed significant edema in the left foot of the fetus, with banding around the ankle, as well as the strangulation mark and narrowing rings. Fetal ABS (ⅡB stage) was diagnosed after multidisciplinary consultation. An immediate emergency cesarean section was performed and a live male baby was born. A thin amniotic band could be seen wrapping around the left ankle of the newborn for several rounds, with obvious strangulation marks about 1 cm deep into the skin, and significant edema on the dorsum and sole of the foot, and the submalleolus area. The amniotic band was released at once, and the edema faded gradually after surgery. After a follow-up of 28 days, the lower limbs of the newborn became normal.

Cirugía fetoscópica en síndrome de banda amniótica: comunicación del primer caso exitoso en el Perú con correlación posnatal a los 6 y 12 meses de vida

El síndrome de banda amniótica (SBA) o complejo de disrupción de banda amniótica es aquella malformación congénita que ocurre como consecuencia de bridas amnióticas de etiología heterogénea, patogénesis que involucra una serie de manifestaciones clínicas fetales, tales como constricción, amputación y múltiples defectos craneofaciales, viscerales y de la pared del cuerpo. La prevalencia estimada de SBA oscila entre 1:15,000 y 1:1,200 nacidos vivos. Afecta a ambos sexos por igual. El diagnóstico prenatal puede sospecharse tan pronto como el primer trimestre tardío, cuando las imágenes por ultrasonido detectan anillos de constricción, amputaciones de extremidades y/o defectos craneofaciales. La terapia prenatal puede ofrecer una alternativa de tratamiento con la liberación de anillos de constricción bajo fetoscopia en aquellos fetos que se verían beneficiados con el procedimiento.

Amniotic band syndrome (ABS) or amniotic band disruption complex is a congenital malformation that occurs because of amniotic flanges of heterogeneous etiology, a pathogenesis that involves a series of fetal clinical manifestations, such as constriction, amputation, and multiple craniofacial, visceral and wall defects. The estimated prevalence of ABS ranges from 1:15.000 to 1:1.200 liveborn. It affects both sexes equally. Prenatal diagnosis may be suspected as early as the late first trimester when ultrasound imaging detects constriction rings, limb amputations and/or craniofacial defects. Prenatal therapy may offer an alternative treatment with release of constriction rings through fetoscopy in those fetuses that would benefit from the procedure.

Diagnóstico y manejo de sindrome de brida amniótica

Síndrome de bridas amnióticas (SBA), una anomalía congènita caracterizada por constricciones y/o amputaciones completas de extremidades a causa de las bridas amnióticas durante el embarazo. En los casos más graves las amputaciones completas están asociadas con otras malformaciones como las craneofaciales. La patogenia del SBA es controversial con baja incidencia. El diagnóstico prenatal oscila entre el 29% a 50% de los casos. Presentamos el caso de una paciente con brida amniótica diagnosticada en la semana 33 de gestación, atendida en nuestro Servicio de Ginecología y Obstetricia del Hospital Obrero N°2 de la Caja Nacional de Salud de Cochabamba, Bolivia.

Amniotic band syndrome (ABS) is a congenital anomaly characterized by constrictions and/or complete amputations of limbs due to amniotic bands during pregnancy. In the most severe cases, complete amputations are associated with other malformations such as craniofacial abnormalities. The pathogenesis of ABS is controversial and has a low incidence. Prenatal diagnosis ranges from 29% to 50% of cases. We present the case of a patient with an amniotic band diagnosed at week 33 of pregnancy, treated in our Gynecology and Obstetrics Service of Hospital Obrero N°2 of the National Health Fund of Cochabamba, Bolivia.

Síndrome de bandas amnióticas en el desarrollo de las hendiduras faciales. Reporte de caso clínico / Amniotic band syndrome in the development of facial clefts. Clinical case report

Introducción: el síndrome de bandas amnióticas abarca una variedad de anomalías congénitas que incluyen la deformación, disrupción y malformación de múltiples órganos. Este síndrome tiene diferentes manifestaciones clínicas al nacimiento, como anillos formados por la constricción de las bandas, amputaciones de extremidades y malformaciones craneofaciales. La incidencia es de aproximadamente 1 en 1,200-15,000 nacidos vivos. Objetivo: realizar la descripción de un paciente femenino de 4 meses de edad que acude al servicio de cirugía oral y maxilofacial del Hospital del Niño DIF Pachuca, Hidalgo, México. La paciente presenta deformidad en la región geniana que se extiende desde el labio superior hasta la región infraorbitaria de lado derecho, pit paracomisural derecho y fisura Tessier 7. Conclusión: se da el diagnóstico final de deformidad maxilofacial a causa del síndrome de bandas amnióticas y la paciente recibe tratamiento médico-quirúrgico con un resultado satisfactorio.

Backgrond: Amniotic band syndrome encompasses a variety of congenital anomalies which include deformation, disruption, or malformation of multiple organs, exhibiting different clinical manifestations at birth, such as rings formed by the constriction of the bands, limb amputations and craniofacial malformations. The incidence is approximately 1 in 1,200-15,000 live births. Objective: To describe a 4-month-old female patient who attends the oral and maxillofacial surgery service of the Hospital del Niño DIF Pachuca, Hidalgo, Mexico, presenting a deformity in the genian region that extending from the upper lip to the infraorbital region on the right side, right paracommissural pit and Tessier fissure 7. Conclusion: In the final diagnosis of maxillofacial deformity due to amniotic band syndrome, medical-surgical treatment is received with a satisfactory result.

Tratamiento de las malformaciones en extremidades en el síndrome de bridas amnióticas: a propósito de un caso / Amniotic band syndrome: management of skeletal limb abnormalities. A case report

El síndrome de bridas amnióticas es un complejo de anomalías congénitas causadas por la rotura prematura del amnios, por lo que se originan bandas fibrosas que comprimen determinadas regiones del feto. Afecta a entre 1:1200 y 1:15 000 recién nacidos vivos según las series consultadas.La clínica típica consiste en alteraciones en las extremidades (anillos de constricción, amputaciones asimétricas más o menos distales, sindactilias y pie zambo), y se han descrito alteraciones toracoabdominales o faciales. Recientes trabajos han demostrado la utilidad del método de Ponseti en el tratamiento del pie zambo asociado al síndrome de bridas amnióticas. Se presenta el caso de un recién nacido que padecía un síndrome de bridas amnióticas y se ahonda en el manejo y la resolución quirúrgica de las malformaciones en las extremidades. En especial, se analiza la utilización del método de Ponseti en el tratamiento del pie zambo congénito sindrómic

Amniotic band syndrome consists in a group of congenital abnormalities caused by strands of the amniotic sac that entangle some parts of the fetus. Those strands result from premature rupture of amnios. The incidence of amniotic band syndrome is 1:1200 to 1:15,000 live births, depending on case studies.Mostly affected parts of fetus are limbs (asymmetric amputations, syndactyly and clubbed foot) but facial and thoracoabdominal abnormalities have also been described.Recent works have proved the utility of Ponseti method to treat clubfoot associated with amniotic band syndrome. We report the case of a newborn with amniotic band syndrome focusing on management and surgical repair of limbs deformities. Especially, we highlight the use of Ponseti method in treatment of syndromic clubfoot

Amniotic band syndrome: a case series

Amniotic band syndrome (ABS) is a rare congenital disorder which involves fetal entrapment in strands of amniotic tissue, which can manifest as constriction rings, limb and digital amputations or complex congenital anomalies and sometimes results in stillbirth. Etiopathogenesis is varied and ABS can be associated with syndromes. Antenatal diagnosis is made by ultrasonography in most cases. Postnatal examination reveals constrictions, amputations and craniofacial or abdominal wall defects. Treatment is case based and surgical intervention is required to release constriction rings. Authors report here six cases (one stillbirth and five live births) of amniotic band syndrome that were encountered over the last one and half years.

A Newborn With Constriction Ring Syndrome: A Case Report

@#We report a rare case of constriction ring syndrome in a 3515 grams full term female newborn who was born with a constriction ring encircling the fingers of her right hand diagnosed as acrosyndactyly. It is a rare congenital malformation and the risk factors are still unknown. The neonate had severe swelling of her third and fifth fingers, and skin breaches. There were intrauterine amputations in her second and forth fingers. The X-ray images showed deformities in both the size and shape of the bones of her fingers. No additional abnormalities or comorbidities were found. The neonate was referred to a better equipped hospital because of impending necrosis from autoamputation. During anamnesis, the mother recalled that she took haloperidol and trihexyphenidyl until 15 weeks’ gestation. There was neither history of fever, trauma, intake of herbal preparations, nor family history of deformity. Etiology and risk factors of congenital constriction ring syndrome are still under discussion. Early intervention is recommended for a successful outcome.

Amniotic band syndrome: a case report / 中华围产医学杂志

A case of amniotic band syndrome (ABS) was reported here. No obvious fetal abnormality was revealed by systematic ultrasound at 22+4 weeks of gestation. At 30 weeks of gestation, the pregnant woman was found to have excessive amniotic fluid and possible fetal edema according to ultrasound images and admitted to the First Affiliated Hospital of Nanjing Medical University. After admission, she received diet control to lower blood glucose and amniotic fluid reduction. The dynamic amniotic fluid index was measured by ultrasound, and the electrical fetal heart rate was monitored daily. Since 32 weeks of gestation, progressive reduction in fetal movement with sinusoidal fetal heart rate pattern was observed. An emergent cesarean section was performed due to fetal distress at a gestational age of 32+3 weeks. During the operation, a porous amniotic membrane was found, from the umbilical cord insertion of the placenta to the ankle of the left lower limb of the fetus. Amniotic band constricting left ankle of newborn and the edema of the left foot was obvious, then ABS was diagnosed. This amniotic band affected the left foot of the fetus directly, while there was not enough evidence whether the flake amniotic membrane near the umbilical cord insertion of the placenta could affect the fetus. This premature infant died of neonatal asphyxia 24 hours after birth.

Amniotic band syndrome: a case report / 中华围产医学杂志

A case of amniotic band syndrome (ABS) was reported here.No obvious fetal abnormality was revealed by systematic ultrasound at 22+4 weeks of gestation.At 30 weeks of gestation,the pregnant woman was found to have excessive amniotic fluid and possible fetal edema according to ultrasound images and admitted to the First Affiliated Hospital of Nanjing Medical University.After admission,she received diet control to lower blood glucose and amniotic fluid reduction.The dynamic amniotic fluid index was measured by ultrasound,and the electrical fetal heart rate was monitored daily.Since 32 weeks of gestation,progressive reduction in fetal movement with sinusoidal fetal heart rate pattern was observed.An emergent cesarean section was performed due to fetal distress at a gestational age of 32+3 weeks.During the operation,a porous amniotic membrane was found,from the umbilical cord insertion of the placenta to the ankle of the left lower limb of the fetus.Amniotic band constricting left ankle of newborn and the edema of the left foot was obvious,then ABS was diagnosed.This amniotic band affected the left foot of the fetus directly,while there was not enough evidence whether the flake amniotie membrane near the umbilical cord insertion of the placenta could affect the fetus.This premature infant died of neonatal asphyxia 24 hours after birth.

Fetal anencephaly with umbilical cord attached to cerebrovasculosa area: autopsy report / Anencefalia fetal com cordão umbilical aderido à área cerebrovasculosa: relato da autópsia

ABSTRACT Our aim was to report the unusual case of an anencephalic fetus that was born with the umbilical cord attached to its cephalic pole. The patient was a 16-year-old pregnant woman. Ultrasound evaluation at 17 weeks revealed a single fetus without cranial vault and brain parenchyma, compatible with anencephaly. Postnatal evaluation, through an autopsy, was consistent with this diagnosis. Moreover, it was observed that the umbilical cord was attached to the area cerebrovasculosa and there was the presence of a fibrous tissue, suggestive of an amniotic band. We have found only one similar case described in the literature.

RESUMEN Reportamos el caso poco usual de un feto anencéfalo nacido con el cordón umbilical adherido al area cerebrovasculosa. La embarazada tenía 16 años de edad. La ecografía de la semana 17 de gestación mostró un feto sin bóveda craneal y parénquima cerebral, compatible con anencefalia. La evaluación posnatal, mediante autopsia, estaba de acuerdo a ese diagnóstico. Además, se ha notado que el cordón umbilical estaba adherido al area cerebrovasculosa, puesto que había presencia de tejido fibroso, sugestivo de banda amniótica. Encontramos solo un caso descrito en la literatura.

RESUMO Relatamos um caso incomum de feto com anencefalia nascido com o cordão umbilical aderido à área cerebrovasculosa. A gestante tinha 16 anos de idade. A avaliação pela ultrassonografia, na 17ª semana de gestação, revelou feto sem calota craniana e parênquima cerebral, compatível com anencefalia. A avaliação pós-natal, através da autópsia, foi concordante com esse diagnóstico. Ademais, notou-se que o cordão umbilical estava aderido à área cerebrovasculosa, visto que havia a presença de tecido fibroso, sugestivo de uma banda amniótica. Encontramos apenas um caso semelhante descrito na literatura.

Síndrome de banda amniótica: reporte de 18 casos / Amniotic band syndrome: a report of 18 cases

Amniotic band syndrome is a congenital fetal abnormality characterized by fibrous bands and multiple disruptive anomalies that vary in presentation and complexity, some of which are incompatible with life. We present 18 cases of this syndrome and the associated pathology. Five newborns and 13 fetuses were examined following the standard pathological examination protocol. Nine were males and nine, females, with body weight varying from less than 100 g to 3 680 g. Cases of amniotic bands affected fingers (13 cases), limbs (5 cases), lips (6 cases), face (6 cases), head (6 cases), abdominal wall (2 cases) and umbilical cord (8 cases). Eight cases included associated malformations in heart, lungs, kidneys, gastrointestinal tract, and umbilical cord (single artery, velamentous insertion, short umbilical cord, nuchal cord). Maternal age was 17 to 41 years; 26 years in average. There were 11 primiparous and 7 multiparous women. Five women had a history of previous abortions. The mothers showed no other pathology. In conclusion, fetuses with the amniotic band syndrome present polymorphic and asymmetric anomalies which should be differentiated from those of chromosomal or genetic origin. Ultrasound examination may identify amniotic bands that could be excised, thus releasing the limb or anatomical segment involved.

El síndrome de banda amniótica es una entidad congénita fetal que consiste en la presencia de bandas fibrosas y anomalías disruptivas muy variadas y variables en presentación y complejidad, algunas incompatibles con la vida. Se presenta 18 casos de síndrome de banda amniótica con estudio anatomopatológico de los fetos o neonatos y revisión de la historia clínica materna. Se encontró 5 neonatos y 13 fetos, 9 de ellos de sexo masculino y 9 de sexo femenino. El menor pesó 19 g y el mayor fue un neonato de 3 680 g; 9 fetos pesaron < 110 g. Las lesiones encontradas estuvieron en dedos 13, en labio 6, en cara 6, en cráneo 5, en abdomen 2, en cordón umbilical 8, en pared abdominal 2, en extremidades 5. Se encontró malformaciones asociadas en 8 casos, de tipo renal, cardiaca, pulmonar, digestiva, musculoesquelética, neurológica y del cordón umbilical. Las del cordón umbilical fueron arteria única, cordón corto, inserción velamentosa y circular de cordón. En relación a la madre, la edad fue entre 17 y 41 años, promedio 26 años; 11 casos ocurrieron en primigestas; de las 7 multigestas, 5 tuvieron abortos previos. No se encontró otros antecedentes familiares o patológicos de importancia. Se concluye que el síndrome de banda amniótica produce en los fetos anomalías polimorfas y asimétricas que es necesario diferenciarlas de aquellas de tipo cromosómico o genético. Así mismo, existe la posibilidad de una intervención intraútero que elimine las bandas fibrosas diagnosticadas ecográficamente a temprana edad gestacional.

Early sonographic diagnosis of amniotic band syndrome at 11－14 weeks′gestation / 中华超声影像学杂志

To investigate the prenatal sonographic feature in the early diagnosis of amniotic band syndrome at 11 －14 weeks′ gestation . Methods A retrospective study was conducted to analysis and summarize the ultrasonographic features of 4 fetuses without band‐like echoes in amniotic cavity at 11－14 weeks′gestation ,but verified as amniotic band syndrome in Peking Union M edical College Hospital . Results T wo cases ( cases 1 ,2) showed the fixed head position with skull defect and intracranial structure disorders . Cases 3 and 4 showed one upper limb in a fixed position ,and the hand seemed to adhere to the umbilical cord isolatedly . In addition ,case 1 showed complete chorioamniotic membrane separation . T here were multiple band‐like echoes adhered to body of 3 fetals during the follow‐up scan at 14 －18 weeks . T he parents of cases 1 and 2 chose to terminate the pregnancy after counseling ,the other 2 cases also induced labor due to intrauterine fetal death at 15+2 weeks and 19+2 weeks respectively . All 4 cases were confirmed as amniotic band syndrome by pathology . Conclusions When the fetal sonographic images showed fixed head position ,disordered intracranial structure ,or adhesion between umbilical cord and hand with limited movement at 11 －14 weeks′ gestation ,it should be paid attention to observing the band‐like echoes and followed up closely to prevent missed diagnosis of amniotic band syndrome .

Brida amniótica abdominal, reporte de un caso / Precordial pain in pediatrics. Update

Existe un amplio espectro de deformidades causadas por bandas amnióticas, siendo las extremidades la ubicación más común. La banda de constricción en el abdomen es un lugar raro para el síndrome de brida amniótica. Presentamos un caso de banda de constricción circunferencial congénita del abdomen sin otras malformaciones. La condición no afectó la ventilación, la alimentación, las deposiciones o el crecimiento. Se planificaron múltiples Z-Plasties en el abdomen antes del primer mes de vida. Revisamos la literatura que hace hincapié en la presentación clínica y el tratamiento de esta rara entidad clínica.

There is a wide spectrum of deformities caused by amniotic bands, being the extremities the most common location. The constriction band in the abdomen is a rare location for constriction band syndrome. We report a case of congenital circumferential constriction band of abdomen without other malformations. The condition did not affect ventilation, feeding, bowel movements, or growth. Multiple Z-plasties were planned in the abdomen before the first month from birth. We reviewed the literature emphasizing on the clinical presentation and management of this rare clinical entity.

Síndrome de Bartsocas-Papas y secuencia de bridas amnióticas: Semejanzas clínicas sugieren un factor etiopatogénico común / Bartsocas-Papas syndrome and amniotic bands sequence: Clinical similarities suggest a common etiopathogenic factor

Introducción: el síndrome de Bartsocas-Papas (SBP) es una entidad letal causada por una mutación homocigota del gen RIPK4, el cual, formando parte de una compleja red molecular, está involucrado en la diferenciación del queratinocito. Las principales manifestaciones del síndrome, parcialmente compartidas por otras displasias ectodérmicas monogénicas son: pterigium en miembros inferiores, fisuras faciales, defectos de reducción distal de miembros y apéndices cutáneos. Por otro lado, la secuencia de bridas amnióticas (SBA), de etiopatogenia desconocida, se caracteriza por un espectro variable de anomalías consideradas disruptivas, incluyendo fisuras faciales y defectos de reducción de miembros. Objetivo: describir los hallazgos clínicos y anatomopatológicos de un paciente con SBP y de otro con SBA, remarcando sus semejanzas. Casos clínicos: 1) Recién nacida con fisura facial, pterigium poplíteo y crural, reducción de dedos y ortejos, y apéndices cutáneos. Placenta con zonas desprovistas de epitelio amniótico. 2) Feto femenino de 27 semanas, fisura facial atípica, reducción distal de miembros, pterigium poplíteo, defecto de cierre de pared tóracoabdominal y polo cefálico, apéndices cutáneos y presencia de bridas amnióticas. Placenta y cordón umbilical con extensas zonas de desprendimiento del epitelio amniótico. Conclusiones: algunos hallazgos similares en el SBP y la SBA permitirían especular acerca de la existencia de un factor intrínseco, relacionado al desarrollo de la piel, y común a ambas entidades.

Introduction: Bartsocas-Papas syndrome (BPS) is a lethal condition caused by a homozygous mutation of the RIPK4 gene, which, being part of a complex molecular network, is involved in keratinocyte differentiation while. The main clinical manifestations are webbing of lower limbs, facial clefts, distal limb reduction defects, and skin tags, and some of these are shared with other monogenic ectodermal dysplasia syndromes. Similarly, amniotic bands sequence (ABS), a condition of unknown etiopathogenesis, is characterized by a variable spectrum of anomalies considered as disruptive, such as facial clefts and limb reduction defects. Objective: to describe clinical and autopsy findings of a patient with BPS and of a fetus with ABS, emphasizing on their similarities. Case reports: 1. Female liveborn with atypical facial clefts, popliteal and crural webbing, distal reduction defects of hands and feet, and multiple skin tags. The placenta showed regions lacking amniotic epithelium. 2. Female fetus of 27 gestational weeks, atypical facial clefts, distal limb reduction defects, popliteal webbing, thoracoabdominal and cephalic closure defects, skin tags, and amniotic bands. Placenta and umbilical cord showed broad regions lacking amniotic epithelium attachment. Conclusions: the observation of a number of findings with remarkable similarities between BPS and ABS allows considering the existence of an intrinsic factor, involved in skin development which is common to both conditions.

Nursing care of one infant with right lower limb ischemia caused by amniotic band syndrome / 中华护理杂志

This paper summarized the nursing experience of one infant with right lower limb ischemia caused by amniotic band syndrome. The nursing key points included:careful observation of the infant condition,exposing the wound,raising the affected limb,wound disinfection,and removing necrotic tissues at the surface skin,applying topical drugs for promoting tissue growth and antibiotics,selecting appropriate dressing to provide suitable environment for tissue regeneration;debridement of inguinal skin,dressing change,assessing pain and providing corresponding care during debridement;infection prevention. After 29 days of treatment and careful nursing care,the skin damage was repaired on the right lower limb,swelling subsided,the necrotic tissues at right inguinal region were completely cleared,granulation tissue was formed,and the infant was discharged smoothly.

Complejo de deformidades amnióticas, adhesiones, mutilación: interminable debate / Complex of amniotic deformities, adhesions, mutilations: Endless debate

El complejo de deformidades amnióticas, adhesiones, mutilaciones (cADAM) es un amplio espectro heterogéneo de anomalías congénitas. Se caracteriza por la presencia de anillos de constricción o amputación de dedos o extremidades y la presencia de bridas amnióticas; no obstante, puede involucrar disrupciones craneofaciales, en órganos internos y defectos de pared. El objetivo de esta revisión fue presentar los datos que se encontraron del cADAM, desde los antecedentes históricos, hasta las manifestaciones clínicas, estudios epidemiológicos y demás; se dirigió especial interés en mostrar las distintas teorías de la etiopatogenia, las contradicciones entre ellas y otros argumentos y conceptos difusos que envuelven a esta entidad. La búsqueda se realizó en las bases de datos de Pubmed, EBSCO host, Ovid, SpringerLink, Scopus, nature.com, JAMA y ScienceDirect con las siguientes palabras clave: "amniotic band syndrome", "sequence amniotic band", "Streeter syndrome", "ADAM complex". Se tomaron en cuenta 22 artículos. Los pacientes con cADAM requieren de una evaluación prenatal y postnatal completa para la integración del diagnóstico, la toma de decisiones y un tratamiento oportuno. De ahí la importancia del conocimiento de esta entidad por parte de clínicos y cirujanos, y la necesidad de replantear interrogantes para nuevas investigaciones y lograr establecer bases nosológicas.

Amniotic deformities, adhesions, mutilations (ADAM) complex is a broad heterogeneous spectrum of congenital anomalies. ADAM complex is characterized by constriction rings, amputation of fingers or limbs and the presence of the amniotic band. However, it may also involve craniofacial disruptions, body wall defects and internal organ abnormalities. The aim of this review is to present the results found in regard to ADAM complex from its historical background, clinical manifestations, epidemiology, etc. In particular, our attention was focused on demonstrating the varying etiopathogenesis theories of ADAM complex and their contradictions. The study was conducted using the databases of PubMed, EBSCO host, Ovid, SpringerLink, Scopus, nature.com, JAMA and ScienceDirect with the following keywords for the search: "amniotic band syndrome", "amniotic band sequence", "Streeter dysplasia", "ADAM complex". In this study we used 22 full-text articles. Patients with ADAM complex require a complete pre- and postnatal evaluation to integrate the diagnosis and to decide on timely treatment. It is important for clinicians and surgeons to possess knowledge of this entity. Further research is necessary to establish a nosological basis.

Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil / Características de fetos avaliados por suspeita de anencefalia: um estudo de coorte de base populacional do Sul do Brasil

CONTEXT AND OBJECTIVE: Anencephaly is considered to be the most common type of neural tube defect. Our aim was to assess the clinical and gestational features of a cohort of fetuses with suspected anencephaly. DESIGN AND SETTING: Population-based retrospective cohort study in a referral hospital in southern Brazil. METHODS: The sample consisted of fetuses referred due to suspected anencephaly, to the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas, between January 2005 and September 2013. Clinical, radiological, pathological and survival data were gathered. RESULTS: Our sample was composed of 29 fetuses. The diagnosis of suspected anencephaly was made on average at 21.3 weeks of gestation. Seven fetuses had malformations that affected other organs, and these included oral clefts (n = 4) and congenital heart defects (n = 2). In 16 cases, there was termination of pregnancy (n = 12) or intrauterine death (n = 4). Regarding those who were born alive (n = 13), all of them died in the first week of life. After postnatal evaluation, the diagnosis of anencephaly was confirmed in 22 cases (75.9%). Other conditions included amniotic band disruption complex (6.9%), microhydranencephaly (6.9%), merocrania (3.4%) and holoprosencephaly (3.4%). CONCLUSIONS: Different conditions involving the cranial vault may be confused with anencephaly, as seen in our sample. However, these conditions also seem to have a poor prognosis. It seems that folic acid supplementation is not being properly performed. .

CONTEXTO E OBJETIVO: A anencefalia é considerada o tipo mais comum de defeito de fechamento do tubo neural. Nosso objetivo foi avaliar as características clínicas e gestacionais de uma coorte de fetos com suspeita de anencefalia. TIPO DE ESTUDO E LOCAL: Estudo de coorte retrospectivo de base populacional em um hospital de referência no sul do Brasil. MÉTODOS: A amostra foi composta por fetos encaminhados por suspeita de anencefalia ao Serviço de Medicina Fetal do Hospital Materno Infantil Presidente Vargas, no período de janeiro de 2005 a setembro de 2013. Foi realizada coleta de dados clínicos, radiológicos, patológicos e de sobrevida. RESULTADOS: Nossa amostra foi composta por 29 fetos. A suspeita do diagnóstico de anencefalia foi realizada em média com 21,3 semanas de gestação. Sete fetos apresentavam malformações que afetavam outros órgãos, e incluíram fendas orais (n = 4) e defeitos cardíacos congênitos (n = 2). Em 16 casos houve interrupção da gravidez (n = 12) ou morte intrauterina (n = 4). Daqueles que nasceram vivos (n = 13), todos morreram na primeira semana de vida. Após a avaliação pós-natal, o diagnóstico de anencefalia foi confirmado em 22 casos (75,9%). Outras condições incluíram o complexo disruptivo de banda amniótica (6,9%), microhidranencefalia (6,9%), merocrania (3,4%) e holoprosencefalia (3,4%). CONCLUSÕES: Diferentes condições que envolvem a calota craniana podem ser confundidas com a anencefalia, como verificado em nossa amostra. No entanto, estas também parecem ter um prognóstico pobre. A suplementação com ácido fólico parece não estar sendo realizada de forma adequada. .

Pentalogía de Cantrell y bandas amnióticas: reporte de un caso y revisión de la literatura / Pentalogy of Cantrell and amniotic bands: A case report and review of the literature

Objetivo: reportar un caso de pentalogía de Cantrell asociado a acranea, hendidura facial medial y reducción de las extremidades derechas originado por bandas amnióticas. Realizar una revisión de la literatura sobre la patogénesis de las bandas amnióticas y los hallazgos en el caso reportado.Materiales y métodos: se presenta el caso de un recién nacido muerto, con malformaciones congénitas antes mencionadas, hijo de madre primigestante de 15 años con 34 semanas de gestación, que consultó al Hospital Universitario del Valle (HUV), hospital de nivel III y IV de referencia en obstetricia, de la red pública del suroccidente colombiano. Como fuente de información se utilizó la historia clínica, fotografías del recién nacido y los Rayos X.Se realizó una búsqueda de literatura con las palabras clave "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" en las bases de datos Medline vía PubMed en inglés y español, sin límite de tiempo; se buscaron reportes de caso, revisiones de tema y series de casos.Resultados: se encontraron treinta artículos, se analizaron todas las referencias y se halló que catorce corresponden a reportes de caso, ocho a revisiones de tema y ocho a series de casos.Conclusiones: se reporta un caso de pentalogía de Cantrell, posiblemente por bandas amnióticas originadas en el desarrollo embrionario. El caso se clasificó como complejo cuerpo-extremidad (LBWC), secundario a bandas amnióticas.

Objective: To report a Pentalogy of Cantrell case associated with acrania, medial facial cleft and reduction of the right limbs as a result of amniotic bands; and to conduct a review of the literature on the pathogenesis of amniotic bands and the findings of the reported case.Materials and methods: Case report of a demised neonate with the above mentionated congenital malformations born to a 15 year-old primigravida in her 34 weeks of gestation who came to Hospital Universitario del Valle (HUV), a level III and IV referral hospital for obstetrics belonging to the public network in south-western Colombia. The clinical record, photographs of the neonate and X-Ray images were used as the sources of information. A search in the literature was conducted using the terms "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" through PubMed in the Medline databases in English and Spanish, with no time limitation; the search included case reports, topic reviews and case series.Results: Overall, 30 articles were found and all the references were analysed; 14 were case reports, 8 were topic reviews and 8 were case series.Conclusions: Report of a Pentalogy of Cantrell case, probably resulting from amniotic bands arising during embryo development. It was classified as a limb body wall complex (LBWC), secondary to amniotic bands.

Síndrome de bandas amnióticas / Amniotic band syndrome

Introducción: el síndrome de bandas amnióticas comprende un grupo de anomalías congénitas esporádicas que se caracterizan por la aparición de anillos fibrosos que pueden provocar importantes defectos estructurales fetales, tanto externos como internos, los más frecuentes afectan a los miembros, pueden producir amputaciones. Objetivo: resaltar la importancia del diagnóstico precoz de malformaciones congénitas y/o defectos estructurales del feto, por ultrasonografía, en la atención primaria de salud. Métodos: se presentan las imágenes ecográficas de un caso de afectación fetal por bandas amnióticas a las 18 sem, ocasionando importantes alteraciones en un miembro y cara fetal, sin otros hallazgos ultrasonográficos. Resultados: previo asesoramiento genético, la pareja decidió la terminación del embarazo. Conclusión: el caso fue confirmado por Anatomía Patológica como un síndrome de bandas amnióticas con defectos estructurales del feto.

Introduction: amniotic band syndrome includes a group of sporadic congenital anomalies characterized by fibrous rings that cause severe external and internal structural fetal defects. The most frequent defects are those affecting the fetus's limps- digits, arms and legs- may lead to amputations. Objective: to highlight the importance of early diagnosis of congenital malformations by ultrasonography in primary health care. Methods: ultrasonographic images of a case of prenatal diagnosis of amniotic band syndrome at 18 weeks of gestation are presented here. This syndrome produced serious fetal extremities and face alterations in a case, with no other ultrasonographic findings. Results: prior genetic counseling, the couple decided the termination of pregnancy. Conclusion: the case was confirmed by pathology as an amniotic band syndrome with structural fetal defects.