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Arnold-Chiari malformation is a defectof the cervical-medullar transition characterized bydisplacement of the cerebellar tonsils and in a numberof cases when the stem and IV ventricle extend into theforamen magnum. There are four main types of pathology,and type II is found most often.The article presents a clinical case of type II ArnoldChiari malformation in siblings. The newborn girl born afterVII pregnancy and VII physiological delivery in the termof 39-40 weeks was under observation. US examination inthe terms of 20-21 and 34 weeks of gestation diagnoseda congenital developmental defect of the central nervoussystem characterized by a “lemon”-like shape of the brain,displacement of the brain structures in the portion of theforamen magnum, ventriculomegaly, a defect of the lumbarsacral portion with formation of hernia sac, and dropsy ofamnion. The family couple refused from interruption ofpregnancy and medical-genetic examination.The basic diagnosis of the child was congenitaldevelopmental defect of the central nervous system(type II Arnold-Chiari malformation: rachischisis andhydrocephalus) including complications such as inferiortorpid paraplegia and dysfunction of the pelvic organs.Investigation of hereditary anamnesis foundcompromised heredity on the mother’s side (her mother’ssibling has Down’s syndrome), and IV child in the familyis disabled from birth due to a congenital developmentaldefect of the central nervous system – type II Arnold-Chiarimalformation.The family couple refused from a comprehensivemedical-genetic consultation during the previous andcurrent pregnancies, and magnetic-resonance imaging ofthe child.

Anencephaly, in which a substantial part of the brain, skull, or scalp is missing, is a lethal neural tube defect (NTD) that occurs during the fourth week of pregnancy after failed cranial neuropore closure. One in every 1,000 births is anencephalic, and newborns with this NTD are not viable or treatable. Associated with anencephaly is rachischisis, or severe incomplete neural tube closure and exposure of the spinal cord. Ultrasonography can quickly diagnose anencephaly. Like other NTDs, nutritional and environmental factors both play a role in the development of anencephaly. Here, we report and discuss an unusual case of a 12-week gestation anencephalic fetus with craniospinal rachischisis and its embryological roots. In our case, except from the low socio-economic life of the patient, the absence of a predisposing factor that could cause such an anomaly, the abortion being in the first trimester and the occurrence in the first pregnancy of the patient as a result of 5-year infertility made us think that pathology examination of the abortus material is important in complet or incomplete abortions.

Congenital atlas abnormalities are rare and often asymptomatic findings, accidentally detected in trauma and, more rarely, in nontrauma patients. Rachischisis in both anterior and posterior atlas arches, condition defined as ‘‘split atlas,” is extremely uncommon and it may well be confused with fracture. Being able to discriminate between these 2 conditions is an essential step in patient care management. In this article, we report 2 cases of split atlas ascertained in both trauma and nontrauma patients. The first concerning a 54-year-old man fell from a 2 m scaffold, and the second related to a 25-year-old woman suffering from treatment-resistant headaches. Subsequently we proceed to analyse the embryology of these abnormalities, and later to discuss pitfalls, tips and tricks useful to a correct diagnosis, in order to achieve an accurate management of split atlas. Specifically, we outline the crucial radiological features to identify, that are beneficial to an efficient differential diagnosis between congenital atlas abnormalities and fracture. These include smooth corticated margins of the cleft, and

The term "sagittal cleft vertebra" (SCV) denotes a rare embryologically derived longitudinal defect within the vertebral body, which is clinically and radiologically challenging to diagnose in isolation. This defect results in two hemivertebrae, which ossify discordantly, ultimately leading to a sagittal cleft through the vertebral body. Often presenting with low back pain or concomitant with an associated syndromic illness, SCV is often found incidentally and can mimic vertebral compression fractures radiographically. Treatment of SCV has largely been conservative and symptomatic. With only 109 reported cases in the current literature, we present a unique case of multiple SCV throughout the thoracolumbar region in an adolescent patient. We performed a review of the literature to identify published cases of SCV to date. We searched PUBMED using the terms "sagittal cleft vertebrae", "butterfly vertebrae", and "anterior rachischisis". Abstracts were screened for reports specifically involving original cases of SCV. Given the well-established association with syndromic illnesses, finding an SCV warrants further investigation for other abnormalities of the musculoskeletal, cardiac, and genitourinary systems. Complex management strategies are rare unless the SCV is associated with an aberrant syndrome, disc herniation or severe musculoskeletal abnormality, or symptomatic disc herniation requiring surgical management. Further studies should focus on uncovering the genetic markers leading to the cleft vertebral bodies, with a focus on early screening and monitoring of patients who could be predisposed to the condition.

Arnold-Chiari malformation is a defectof the cervical-medullar transition characterized bydisplacement of the cerebellar tonsils and in a numberof cases when the stem and IV ventricle extend into theforamen magnum. There are four main types of pathology,and type II is found most often.The article presents a clinical case of type II ArnoldChiari malformation in siblings. The newborn girl born afterVII pregnancy and VII physiological delivery in the termof 39-40 weeks was under observation. US examination inthe terms of 20-21 and 34 weeks of gestation diagnoseda congenital developmental defect of the central nervoussystem characterized by a “lemon”-like shape of the brain,displacement of the brain structures in the portion of theforamen magnum, ventriculomegaly, a defect of the lumbarsacral portion with formation of hernia sac, and dropsy ofamnion. The family couple refused from interruption ofpregnancy and medical-genetic examination.The basic diagnosis of the child was congenitaldevelopmental defect of the central nervous system(type II Arnold-Chiari malformation: rachischisis andhydrocephalus) including complications such as inferiortorpid paraplegia and dysfunction of the pelvic organs.Investigation of hereditary anamnesis foundcompromised heredity on the mother’s side (her mother’ssibling has Down’s syndrome), and IV child in the familyis disabled from birth due to a congenital developmentaldefect of the central nervous system – type II Arnold-Chiarimalformation.The family couple refused from a comprehensivemedical-genetic consultation during the previous andcurrent pregnancies, and magnetic-resonance imaging ofthe child., Мальформация Арнольда-Киари – мальформация цервико-медуллярного перехода, которая характеризуется смещением миндалин мозжечка и, в рядеслучаев, ствола и IV желудочка ниже уровня большогозатылочного отверстия. Различают четыре основныхтипа патологии, среди которых чаще всего встречается тип ІІ. В статье представлен клинический случаймальформации Арнольда-Киари II типа у сибсов. Под наблюдением находилась новорожденная девочка от VIIбеременности и VII родов естественным путем в 39-40недель. При проведении УЗ обследование в сроке 20-21 и 34 недели гестации диагностирован врожденныйпорок развития центральной нервной системы, которыйхарактеризовался формой мозга в виде «лимон», смещением структур мозга в области затылочного отверстия,вентрикуломегалией, дефектом пояснично-крестцовогоотдела с формированием грыжевого мешка, многоводием. От прерывания беременности и прохождения медико-генетического обследования супруги отказались.У данного ребенка установлен клинический диагнозосновной: врожденный порок развития центральнойнервной системы (мальформация Арнольда-Киари IIтипа: рахишизис и гидроцефалия), осложнения: нижняявялая параплегия, дисфункция тазовых органов.При изучении наследственного анамнеза установлено, что наследственность по линии матери отягощена (уродного брата ее матери - синдром Дауна), а IV ребенокв семье является инвалидом детства вследствие наличия врожденного порока развития центральной нервнойсистемы – мальформации Арнольда-Киари II типа. Отрасширенного медико-генетического консультированияво время предыдущей и данной беременности, а такжепроведения магнитно-резонансной томографии ребенкусупруги также отказались.&nbsp, Мальформація Арнольда-Кіарі – мальформація цервіко-медулярного переходу, яка характеризується зміщенням мигдаликів мозочку та, у ряді випадків, стовбура і IV шлуночка нижче рівня великого потиличного отвору. Розрізняють чотири основних типи патології, серед яких найчастіше зустрічається тип ІІ.У статті представлено клінічний випадок мальформації Арнольда-Кіарі ІІ типу у сибсів. Під спостереженням знаходилася новонароджена дівчинка від VIIІ вагітності та VIIІ пологів природнім шляхом у 39-40тижнів. При проведенні УЗ обстеження у терміні 20-21 та 34 тижнів гестації діагностовано уроджену вадурозвитку центральної нервової системи, яка характеризувалася формою мозку у вигляді «лимона», зміщеннямструктур мозку в ділянці потиличного отвору, вентрикуломегалією, дефектом попереково-крижового відділуз формуванням грижового мішка, багатоводдям. Від переривання вагітності та проходження медико-генетичного обстеження подружжя відмовилося.У даної дитини встановлено клінічний діагноз основний: уроджена вада розвитку центральної нервовоїсистеми (мальформація Арнольда-Кіарі ІІ типу: рахішизис грудо-попереково-крижового відділу хребта, внутрішня гідроцефалія); ускладнення: нижня млява параплегія, дисфункція тазових органів.При вивченні спадкового анамнезу встановлено, що спадковість по лінії матері обтяжена (у рідного брата її матері – синдром Дауна), а IV дитина у сім'ї є інвалідом дитинства внаслідок наявності уродженої вадирозвитку центральної нервової системи – мальформації Арнольда-Кіарі ІІ типу.Від розширеного медико-генетичного консультування під час попередньої та даної вагітності, а такожпроведення магнітно-резонансної томографії дитині подружжя також відмовилося.

Anencephaly is a severe neural tube defect (NTD) caused by failure of closure in the cranial neuropore during fourth week of pregnancy. As a result, major portion of the brain, skull and scalp is absent. Anencephaly may be associated with rachischisis, where defective neural tube closure is extensive and spinal cord is exposed. Overall incidence of anencephaly is one in every 1000 births. It can be easily diagnosed by ultrasonography. Anencephaly newborns are not viable nor treatable and classified as lethal NTDs. Nutritional and environmental factors play a role in production of NTDs. Here we report and discuss a rare case of anencephalic fetus with craniospinal rachischisis of 25 weeks of gestation and their embryological origin. Keywords: Anencephaly, Neural tube defect, Rachischisis.

Background Iniencephaly is an extremely rare congenital neural tube defect (NTD) involving the occipital region with rachischisis of the cervicothoracic spine and fixed retroflexion deformity of the head. It affects an estimated 0.1–10 out of 10,000 pregnancies and carries a dismal prognosis. Most affected children are either stillborn or perish within a few hours of delivery. Pathological and postmortem studies of iniencephaly significantly outnumber the limited amount of literature available on patients surviving with this disorder. To date, surgical repair has been attempted in only 3 of the 8 patients with iniencephaly who have survived long-term. Thus, a huge knowledge gap remains regarding the neurosurgical nuances and postsurgical outcomes in iniencephaly. Case Description A 4-year-old girl presented with soft, fluctuant swelling in the suboccipital region and was subsequently diagnosed with iniencephaly. She underwent a successful surgical repair of the encephalocele with dural plication. No recurrence of swelling or new neurologic deficits were noted at a 1-year follow-up. Conclusion Iniencephaly is a complex NTD associated with high perinatal mortality that requires a vigilant antenatal diagnosis. Surgical repair may be attempted in the lucky few survivors after a thorough evaluation of the anomaly.

Background: Large wounds following surgery for neural tube defects are difficult to close; physical wound characteristics such as position and dimension would serve as a guide for their surgical closure. Aim: To study how wound dimension determines the choice between primary and rhomboid flap closure of skin defects following surgery for neural tube defects. Materials And Methods: A retrospective study was carried out on cases of neural tube defects operated in the department of paediatric surgery at a tertiary center for 3 years from January 2015 to December 2017. Data regarding clinical features, location, wound dimensions following surgery, any bony deformity, method of closure used, distance of wound from anus, and postoperative complications were collected and analyzed. Results: A total of 114 cases were operated during this period; 86/114 had primary closure, whereas 28/114 needed rhomboid flap for tension-free cover. Primarily closed wounds had a biphasic distribution of (long axis)/(short axis) ratio (with values either >1.65 or

OBJECTIVE We have described previously our percutaneous fetoscopic technique for the treatment of open spina bifida (OSB). However, approximately 20-30% of OSB defects are too large to allow primary skin closure. Here we describe a modification of our standard technique using a bilaminar skin substitute to allow closure of large spinal defects. The aim of this study was to report our clinical experience with the use of a bilaminar skin substitute and a percutaneous fetoscopic technique for the prenatal closure of large OSB defects. METHODS Surgery was performed between 24.0 and 28.9 gestational weeks with the woman under general anesthesia, using an entirely percutaneous fetoscopic approach with partial carbon dioxide insufflation of the uterine cavity, as described previously. If there was enough skin to be sutured in the midline, only a biocellulose patch was placed over the placode (single-patch group). In cases in which skin approximation was not possible, a bilaminar skin substitute (two layers: one silicone and one dermal matrix) was placed over the biocellulose patch and sutured to the skin edges (two-patch group). The surgical site was assessed at birth, and long-term follow-up was carried out. RESULTS Percutaneous fetoscopic OSB repair was attempted in 47 consecutive fetuses, but surgery could not be completed in two. Preterm prelabor rupture of membranes (PPROM) occurred in 36 of the 45 (80%) cases which formed the study group, and the mean gestational age at delivery was 32.8 ± 2.5 weeks. A bilaminar skin substitute was required in 13/45 (29%) cases; in the remaining 32 cases, direct skin-to-skin suture was feasible. There were 12 cases of myeloschisis, of which 10 were in the two-patch group. In all cases, the skin substitute was located at the surgical site at birth. In five of the 13 (38.5%) cases in the two-patch group, additional postnatal repair was needed. In the remaining cases, the silicone layer detached spontaneously from the dermal matrix (on average, 25 days after birth), and the lesion healed by secondary intention. The mean operating time was 193 (range, 83-450) min; it was significantly longer in cases requiring the bilaminar skin substitute (additional 42 min on average), although the two-patch group had similar PPROM rate and gestational age at delivery compared with the single-patch group. Complete reversal of hindbrain herniation occurred in 68% of the 28 single-patch cases and 33% of the 12 two-patch cases with this information available (P

“Serpentine-like syndrome” is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs. We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip. Most of these anomalies were detected antenatally. Molecular karyotype was normal. She died at age 12 days. To our knowledge, the present patient represents the 8th report of a case of “Serpentine-like syndrome”. Brachioesophagus and congenital vertebral anomalies, in particular rachischisis, are the cardinal features of this condition. All reported cases have been sporadic and the cause is still unknown. We believe that the specificity of the presentation as well as the similarities between available descriptions of patients suggests a common, yet to identify, molecular cause, possibly involving a developmental “toolkit”/homeobox gene or related pathways.

Craniospinal rachischisis is a rare and severe form of neural tube defects (NTDs), which is always fatal. It is characterized by anencephaly accompanied by a bony defect of the spine and exposure of neural tissue. We describe the two patients with ultrasonographic and magnetic resonance imaging appearance of craniospinal rachischisis totalis, detected antenatally at 22 and 25 weeks of gestation, and confirmed after termination of pregnancy. The multifactorial etiology of NTDs, with specific reference to folate deficiency, is discussed with possible role of folate fortification in the Indian context.

Background Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in serious neurological consequences or psychomotor delay. Different types are classified according to the clinical picture and the spectrum of pathologic changes. Method Clinical, genetic, molecular, encephalographic, radiological, pathological and survival data were gathered. Results The patient report presents the medical history of a pontocerebellar hypoplasia (PCH) child, which unrepresented in previous case histories. Our patient has a heterozygote mutation in 8 exon gene TSEN54 and in 1 exon in gene EXOSC3. It is important to note that such a mutation in TSEN54, however, in different exons is presented in PCH type 2A, PCH type 4 and PCH type 5 and a mutation in gene EXOSC3 is demonstrated in PCH1B. We compared all known PCH types (19 PCH types) and tried to find correlations between this child’s features and those associated with the other one. This case tries to resolve the diagnostic issues related to the combination of features of these different types simultaneously in one child. Clinical features include seizures, feeding and swallowing disorders, strabismus, kyphoscoliosis, poor balance and coordination, mental retardation, severe speech impairment, hypotonia. Our patient had some phenotype peculiarities, such as: brachycephalia, protruding brow arcs, preauricular excrescence, medial eyebrow flare, hypoplasia of the lower face, large nose, eyelids ptosis. The morphological changes of this case were microgyria, pontocerebellar hypoplasia, and corpus colosum hypoplasia. Moreover, an MRI confirmed TH4 rachischisis, and an ultrasound revealed thymomegaly and septal defects. An EEG demonstrated slow flashes with high-amplitude. In the frontal leads we can see epileptic discharges and periods of disorganization of cortical rhythm. EMG results were normal. Blood test showed no abnormalities. Uncontrolled seizures made the child’s condition unstable and he needed palliative care. Conclusion Therefore, our investigation continues to determine whether the child has a pontocerebellar hypoplasia (PCH) with undeclared molecular karyotype or has a combination of PCH type 2A, PCH type 4 and PCH type 5.

Fetal iniencephaly is an uncommon neural tube anomaly characterized by fixed retroflexion of the head, an occipital defect, and cervicothoracic rachischisis. Polyhydramnios and elevated levels of α-fetoprotein are present in most cases. Fetal iniencephaly can be detected on antenatal ultrasonography. If undiagnosed prenatally, it may result in a difficult delivery as well a multitude of postnatal problems for both the patient and the family. Early antenatal diagnosis is therefore important. We present a case of iniencephaly detected on ultrasonography and fetal magnetic resonance imaging.

Sirenomelia is a rare congenital malformation characterized by varying degrees of fusion of the lower extremities. It is commonly associated with severe urogenital and gastrointestinal malformations; however, the association of sirenomelia with anencephaly and rachischisis totalis is extremely rare. To our knowledge, the prenatal sonographic images of this association have not been previously published. Here, we present prenatal sonographic images of this association, detected during the 17th week of gestation through combined two-dimensional, four-dimensional, and color Doppler ultrasound. Two-dimensional ultrasound images showed anencephaly, spina bifida, and possible fusion of the lower limbs. Three-dimensional HDlive rendering images confirmed the final diagnosis of sirenomelia with anencephaly and rachischisis totalis. The patient opted to undergo medical termination of pregnancy and delivered a fetus with fused lower limbs, anencephaly, and rachischisis totalis confirming thein uteroimaging findings. Awareness of these rare associations will help avoid misdiagnoses and facilitate prenatal counselling. This case highlights the importance of a thorough ultrasound examination.

Congenital rachischisis and brachioesophagus with secondary intrathoracic stomach, which is described as “serpentine-like syndrome”, is a very rare condition. We report the prenatal findings of serpentine-like syndrome in a fetus at 18 weeks of gestation. The stomach was entirely elevated into the thoracic area, but the liver retained its normal position. Our initial diagnosis was isolated left congenital diaphragmatic hernia (CDH). At 20 weeks of gestation, the pregnancy was terminated, and a male newborn weighing 338 g was vaginally delivered. The autopsy findings revealed an extremely short esophagus, and the stomach was located in the posterior mediastinum as a result of congenital esophagus hiatal hernia. A severe case of rachischisis was identified from the cervical to thoracic vertebrae. The prognosis of congenital intrathoracic stomach associated with serpentine-like syndrome is extremely poor compared to the prognosis of isolated CDH. It is difficult to make a definite diagnosis by ultrasound alone; however, atypical findings, such as the presence of the entire intrathoracic stomach despite the normally located liver, may warrant further exploration. Obstetricians and neonatal clinicians presented with similar cases should be alerted to the significance of these prenatal findings and the differences in outcomes to ensure appropriate counseling of parents.

Rationale: Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently. Patient concerns: We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation. Diagnoses: To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy. Interventions: The final diagnosis is confirmed with radiological examination after the termination of pregnancy. Outcomes: Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios. Lessons: The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field.

Made available in DSpace on 2019-09-12T16:53:24Z (GMT). No. of bitstreams: 0 Previous issue date: 2018 Objective We have described previously our percutaneous fetoscopic technique for the treatment of open spina bifida (OSB). However, approximately 20-30% of OSB defects are too large to allow primary skin closure. Here we describe a modification of our standard technique using a bilaminar skin substitute to allow closure of large spinal defects. The aim of this study was to report our clinical experience with the use of a bilaminar skin substitute and a percutaneous fetoscopic technique for the prenatal closure of large OSB defects. Methods Surgery was performed between 24.0 and 28.9 gestational weeks with the woman under general anesthesia, using an entirely percutaneous fetoscopic approach with partial carbon dioxide insufflation of the uterine cavity, as described previously. If there was enough skin to be sutured in the midline, only a biocellulose patch was placed over the placode (single-patch group). In cases in which skin approximation was not possible, a bilaminar skin substitute (two layers: one silicone and one dermal matrix) was placed over the biocellulose patch and sutured to the skin edges (two-patch group). The surgical site was assessed at birth, and long-term follow-up was carried out. Results Percutaneous fetoscopic OSB repair was attempted in 47 consecutive fetuses, but surgery could not be completed in two. Preterm prelabor rupture of membranes (PPROM) occurred in 36 of the 45 (80%) cases which formed the study group, and the mean gestational age at delivery was 32.8 +/- 2.5 weeks. A bilaminar skin substitute was required in 13/45 (29%) cases; in the remaining 32 cases, direct skin-to-skin suture was feasible. There were 12 cases of myeloschisis, of which 10 were in the two-patch group. In all cases, the skin substitute was located at the surgical site at birth. In five of the 13 (38.5%) cases in the two-patch group, additional postnatal repair was needed. In the remaining cases, the silicone layer detached spontaneously from the dermal matrix (on average, 25 days after birth), and the lesion healed by secondary intention. The mean operating time was 193 (range, 83-450) mth; it was significantly longer in cases requiring the bilaminar skin substitute (additional 42 min on average), although the two-patch group had similar PPROM rate and gestational age at delivery compared with the single-patch group. Complete reversal of hindbrain herniation occurred in 68% of the 28 single-patch cases and 33% of the 12 two-patch cases with this information available (P < 0.05). In four cases there was no reversal; half of these occurred in myeloschisis cases. Conclusions Large OSB defects may be treated successfully in utero using a bilaminar skin substitute over a biocellulose patch through an entirely percutaneous approach. Although the operating time is longer, surgical outcome is similar to that in cases closed primarily. Cases with myeloschisis seem to have a worse prognosis than do those with myelomeningocele. PPROM and preterm birth continue to be a challenge. Further experience is needed to assess the risks and benefits of this technique for the management of large OSB defects. Copyright (C) 2018 ISUOG. Published by John Wiley & Sons Ltd. [Lapa (Pedreira), D. A.; Goncalves, R. T.] Hosp Israelita Albert Einstein, Fetal Therapy Program, Sao Paulo, Brazil [Acacio, G. L.] Universidade de Taubaté (Unitau), Dept Obstet [Sa, R. A. M.] Perinatal Barra, Fetal Med, Rio De Janeiro, Brazil [Brandt, R. A.] Hosp Israelita Albert Einstein, Sao Paulo, Brazil [Chmait, R. H.; Kontopoulos, E. V.; Quintero, R. A.] USFetus Res Consortium, Miami, FL USA

Iniencephaly is a rare neural tube defect, characterized by the classical triad of extreme retroflexion of the head, occipital bone defect and variable rachischisis. Its etiology is not fully understood: it might arise due to anomalies of genes controlling the planar cell polarity pathway, affecting the dorso-ventral orientation of the body axis. Risk factors include low socio-economic status and lack of folic acid supplementation. In up to 90% of cases involves female gender. We report a case diagnosed prenatally at 13 weeks by ultrasonography. It was characterized by abnormal shape of the fetus, with no distinct separation between the head and the body, extreme retroflexion of the fetal head, significant shortening of the spine, hypotelorism and holoprosencephaly. Three-dimensional (3D) ultrasound reconstruction evidenced the occiput absence and the same marked retroflexion with lordotic cervical spine, but with clear, distinct, un-fussed vertebrae. The parents opted to have an elective termination of pregnancy. Pathological examination confirmed the diagnosis, showing a perfect correlation with the ultrasound findings. The anomaly is incompatible with life, and early antenatal ultrasound diagnosis is advisable. Suggestive 3D images were helpful for illustrating these issues to the parents during prenatal counseling.

Neural tube defects (NTDs) belong to a group of fetal malformations with high relevance in perinatal care, because of their prevalence and the possible consequences to the affected individuals. According to the geographic region considered, their incidence varies between 1/1000 and 8/1000 live births, and their recurrence is 2–3%. In Brazil and Latin America, the incidence of NTDs is about 1.2/1000 live births.

Cyclopia is a severe form of holoprosencephaly which results in children being born with just one eye, absence of nose and presence of a proboscis above the median eye. Incidence of cyclopia is around 1.05 in 1, 00,000 births, including stillbirths. The association of anencephaly with spinal rachichisis varies from 17-50%. However, the existence of cyclopia with anencephaly and spinal rachischisis has been reported only in 9 cases till date. We report one more case of cyclopia with anencephaly and spinal rachischisis. Awareness of this spectrum of association with cyclopia, albeit rare, will help in early antenatal diagnosis by fetal ultrasonography. Public education and strict adherence to folic acid supplementation can prevent this unfortunate anomaly.

Congenital short oesophagus and with intrathoracic development of the stomach is a rare developmental anomaly of the gastrointestinal system. Knowledge regarding its aetiology and management is limited. We report a case in which, in addition to short oesophagus and intrathoracic stomach, an encephalocele was identified during the antenatal period. After the postpartum examination, encephalocele, split notochord malformation, midline localized liver and congenital short oesophagus were confirmed. The report of this case adds to the body of knowledge on this rare condition.

Myelomeningocele, also known as spina bifida, is one of the most common congenital anomalies of the central nervous system and the most common open, prenatally repaired birth defect. The Management of Myelomeningocele Study (MOMS), which compared the results of prenatal and postnatal myelomeningocele repair, found prenatal surgery to be much more effective than postnatal surgery. During surgery, the surgeon makes a hysterotomy and repairs the fetal myelomeningocele without removing the fetus from the uterus. After the repair is completed, the surgeon closes the uterus. The obstetric team monitors the mother closely with a goal of performing a cesarean delivery at 37 weeks' gestation. The fetal surgery nursing team used innovative simulation teaching methods to establish and maintain fetal surgery team member competence, resulting in a successful program with good outcomes.

Introducción: la iniencefalia es un defecto del tubo neural, de baja frecuencia, del cual no hay valores de prevalencia establecidos. Esta patología se caracteriza por un ensanchamiento del foramen magno, raquisquisis y retroflexión marcada de la cabeza. El objetivo de este artículo es reportar un caso con los hallazgos clásicos de iniencefalia, y revisar la literatura.Materiales y métodos: se presenta el caso de un recién nacido de sexo femenino, producto de madre primigestante de 14 años, que consultó a institución de tercer nivel de complejidad, que atiende pacientes en su mayoría de la red pública del suroccidente colombiano, con ecografía prenatal que mostró feto con defecto a nivel de vértebras cervicales y torácicas. Al recién nacido se le realizó autopsia y radiografías, en los que se evidenciaron anomalías clásicas de iniencefalia. Se realiza búsqueda en las base de datos Medline vía PubMed por medio de la palabra claveiniencephaly.Conclusión: la importancia de este reporte radica en sumar a la literatura un nuevo caso de iniencefalia asociado con meningocele e hipoplasia de radio y ulna, adicionalmente es el primero reportado en Colombia.

We report a male infant with severe brachioesophagus with intrathoracic stomach, duodenum, pancreas, and spleen associated with short neck because of rachischisis and scoliosis, an extremely rare condition described recently as "serpentine-like syndrome". Our case died and we review four similar cases reported in the English literature.