Síndrome de la costilla deslizante en la edad pediátrica. Serie de casos / Slipping rib syndrome in childhood. A case series

Entre las causas de dolor torácico, la costilla deslizante presenta baja prevalencia, antecedentes traumáticos y manejo controvertido. Este síndrome merece ser incluido en el diagnóstico diferencial de causas de dolor torácico en niños. Al no asociarse a traumatismos previos y la deformidad de cartílagos, nos induce a pensar en una alteración en el desarrollo costal, al margen de la etiología traumática típica en adultos. Se presenta una serie de pacientes pediátricos intervenidos por costilla deslizante en un centro de referencia entre 2001 y 2022. Se incluyeron nueve pacientes, con un rango de edades de 11 a 16 años. Solo dos casos describen traumatismo previo. Todos presentan un inicio súbito de dolor toracoabdominal intenso. Los pacientes fueron intervenidos mediante resección abierta de cartílagos costales afectos, con resolución del dolor.

Among the causes of chest pain, slipping rib has a low prevalence, usually with a history of trauma, and its management is controversial. Slipping rib syndrome should be included in the differential diagnosis of causes of chest pain in children. When not associated with previous trauma and cartilage deformity, it is necessary to consider an alteration in rib development, regardless of the typical traumatic etiology in adults. Here we describe a series of pediatric patients with slipping rib seen at a referral hospital between 2001 and 2022. Nine patients aged 11 to 16 years were included. Only 2 had a history of trauma. All patients described a sudden onset of severe thoracic abdominal pain. The patients underwent open resection of the affected costal cartilages, with resolution of pain.

Slipping rib syndrome in childhood. A case series. / Síndrome de la costilla deslizante en la edad pediátrica. Serie de casos.

Among the causes of chest pain, slipping rib has a low prevalence, usually with a history of trauma, and its management is controversial. Slipping rib syndrome should be included in the differential diagnosis of causes of chest pain in children. When not associated with previous trauma and cartilage deformity, it is necessary to consider an alteration in rib development, regardless of the typical traumatic etiology in adults. Here we describe a series of pediatric patients with slipping rib seen at a referral hospital between 2001 and 2022. Nine patients aged 11 to 16 years were included. Only 2 had a history of trauma. All patients described a sudden onset of severe thoracic abdominal pain. The patients underwent open resection of the affected costal cartilages, with resolution of pain.

Entre las causas de dolor torácico, la costilla deslizante presenta baja prevalencia, antecedentes traumáticos y manejo controvertido. Este síndrome merece ser incluido en el diagnóstico diferencial de causas de dolor torácico en niños. Al no asociarse a traumatismos previos y la deformidad de cartílagos, nos induce a pensar en una alteración en el desarrollo costal, al margen de la etiología traumática típica en adultos. Se presenta una serie de pacientes pediátricos intervenidos por costilla deslizante en un centro de referencia entre 2001 y 2022. Se incluyeron nueve pacientes, con un rango de edades de 11 a 16 años. Solo dos casos describen traumatismo previo. Todos presentan un inicio súbito de dolor toracoabdominal intenso. Los pacientes fueron intervenidos mediante resección abierta de cartílagos costales afectos, con resolución del dolor.

Cervical rib which resembles original thoracic rib presenting with thoracic outlet syndrome (TOS): literature review with a case report / Costilla cervical que se asemeja a una costilla torácica presentándose con síndrome de salida torácica (SST): revisión de la literatura a partir de un caso clínico

The cervical rib (CR) is a rare skeletal anomaly, which generally articulated with the transverse process of the 7th cervical vertebra, and commonly lead to compression of neurovascular structures in the region of the thoracic outlet. CRs are divided into 2 classes as complete and incomplete forms. A clarifying description of the so-called complete CR form has not been found with sufficient information in the literature. We aimed to present a novel case of an anomalous, supernumerary, extra, or additional rib which arises from the seventh cervical vertebra. We present the case of a 23-year-old female who presented with a mass described as slowgrowing since her childhood in the supraclavicular region. The patient complained of pain, numbness, weakness, and difficulty in lifting her right arm, which increased gradually over in the last 6 months. Physical examination revealed findings of thoracic outlet syndrome (TOS). Radiographic analysis demonstrated a huge cervical rib, which resembles the size of a real thoracic rib. The cervical rib was completely resected through the supraclavicular approach. There is not enough data in theliterature about different morphologic properties of CRs. It is presented with 3-D CT images before and after surgical resection. The final version of the transformation of C7 transverse process to an original Thoracic Rib is shown. As a result, the following question presented, can it be called a Zeroth Rib?.

La costilla cervical (CC) es una anomalía esquelética rara, que generalmente se articula con el proceso transverso de la séptima vértebra cervical y generalmente conduce a la compresión de estructuras neurovasculares en la región de salida torácica. Las CC se dividen en 2 clases, como formas completas e incompletas. No se ha encontrado una descripción aclaratoria de la forma completa de CC, con información insuficiente en la literatura. El objetivo de este trabajo fue presentar un nuevo caso de costilla anómala, supernumeraria, extra o adicional que surge de la séptima vértebra cervical. Exponemos el caso de una mujer de 23 años que presentó una masa descrita como de crecimiento lento desde su infancia en la región supraclavicular. La paciente relató dolor, entumecimiento, debilidad y dificultad para levantar el miembro superior derecho, con un aumento gradual de sus síntomas en los últimos 6 meses. El examen físico reveló hallazgos del síndrome de salida torácica (SST). El análisis radiográfico demostró una costilla cervical de tamaño importante, que se asemejaba al tamaño de una costilla torácica real. La costilla cervical fue resecada completamente a través de un abordaje supraclavicular. No hay suficientes datos en la literatura sobre las diferentes características morfológicas de las CC. Se presentan imágenes tridimensionales de tomogracía computarizada, antes y después de la resección quirúrgica. Se muestra la versión final de la transformación del proceso transverso de C7 a una costilla torácica original. Como resultado, se plantea la siguiente pregunta, ¿se puede denominar a esta costilla como "costilla cero"?.

Síndrome lumbocostovertebral: primer reporte de caso en Argentina / Lumbocostovertebral syndrome: first case report in Argentina

El síndrome lumbocostovertebral se define por la presencia de hernia lumbar, hemivértebras y anomalías costales. El objetivo de este trabajo es describir el primer caso reportado en Argentina. El paciente fue comunicado a la Red Nacional de Anomalías Congénitas de Argentina. Se describe el cuadro clínico, los diagnósticos diferenciales y los posibles mecanismos patogénicos involucrados. Se sugiere que esta entidad sea considerada como una asociación. La hernia lumbar en un recién nacido es un hallazgo infrecuente y debe pesquisarse la presencia de otras anomalías asociadas.

Lumbocostovertebral syndrome is defined by the presence of lumbar hernia, hemivertebrae and costal anomalies. Our aim was to describe the first case reported in Argentina. The patient was reported to the National Registry of Congenital Anomalies of Argentina. The clinical picture, differential diagnoses and possible pathogenic mechanisms involved are described. We suggest considering this as a lumbocostovertebral association. Lumbar hernia in a newborn is an infrequent finding and other associated anomalies should be evaluated.

[Lumbocostovertebral syndrome: first case report in Argentina]. / Síndrome lumbocostovertebral: primer reporte de caso en Argentina.

Lumbocostovertebral syndrome is defined by the presence of lumbar hernia, hemivertebrae and costal anomalies. Our aim was to describe the first case reported in Argentina. The patient was reported to the National Registry of Congenital Anomalies of Argentina. The clinical picture, differential diagnoses and possible pathogenic mechanisms involved are described. We suggest considering this as a lumbocostovertebral association. Lumbar hernia in a newborn is an infrequent finding and other associated anomalies should be evaluated.

El síndrome lumbocostovertebral se define por la presencia de hernia lumbar, hemivértebras y anomalías costales. El objetivo de este trabajo es describir el primer caso reportado en Argentina. El paciente fue comunicado a la Red Nacional de Anomalías Congénitas de Argentina. Se describe el cuadro clínico, los diagnósticos diferenciales y los posibles mecanismos patogénicos involucrados. Se sugiere que esta entidad sea considerada como una asociación. La hernia lumbar en un recién nacido es un hallazgo infrecuente y debe pesquisarse la presencia de otras anomalías asociadas.

Winged Ribs: An Underestimated Problem That May Compromise Breast Augmentation Outcomes.

Chest wall shape is an important aspect to consider when planning a breast augmentation. Minor chest wall deformities are usually underestimated by the patient and surgeon and may compromise postoperative outcomes. Lower costal cartilage dysmorphia or winged rib is one of these minor underestimated chest wall deformities characterized by a visible and palpable cartilaginous prominence under the inframammary fold and causes discomfort in patients decreasing the satisfaction with the breast augmentation surgery. For these patients, the author utilized an innovative surgical technique that allows resection of the protruding cartilages and placement of breast implants through the same surgical incision. Six patients with winged ribs underwent breast augmentation and costal cartilage resection via this method and there were no intraoperative or early postoperative complications, and all patients were satisfied with the aesthetical result after 6 months of follow-up. The presented surgical technique has a short learning curve with excellent postoperative results. Cases are presented to demonstrate the improved postoperative chest wall contour combined with breast augmentation outcome.Level of Evidence IV This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Hypoplasia of ribs associated with cleft palate, cleft lip, and unilateral renal agenesis in a neonate dog of undefined breed / Hipoplasia de costelas associada a fenda palatina, lábio leporino e agenesia renal unilateral em cão neonato sem raça definida

Congenital defects can cause changes in the normal function or morphology of organs, thus contributing to neonatal mortality. Malformations in dogs occur as a result of genetic factors or by the action of teratogenic agents during pregnancy. Genetic defects can be inherited from one or both parents. These defects are more common in purebred puppies or can even be the result of consanguinity. Teratogenic agents, such as toxins, drugs, infectious diseases, mechanical influences, and irradiation, may affect the litters during gestational development. Hypoplasia of ribs has been described in human newborns. It is a rare and lethal malformation of autosomal recessive inheritance that prevents thoracic expansion and reduces pulmonary compliance, causing respiratory failure. A pregnant bitch of undefined breed was submitted to caesarean section. At birth, a neonate exhibited respiratory distress, and the palpation of the thorax indicated absence of ribs. In addition, the newborn had cleft palate and cleft lip, which led to perform the euthanasia of the animal. Post-mortem examination indicated hypoplasia of ribs and unilateral renal agenesis. As in the canine neonate, hypoplasia of ribs in human newborns is also associated with other malformations, such as cleft lip, cleft palate, and urogenital defects. The present report describes the first case of hypoplasia of ribs associated with other malformations in a canine neonate, the cause being possibly related to a genetic hereditary factor.(AU)

Os defeitos congênitos podem causar alterações na função ou na morfologia normal de órgãos, contribuindo para a mortalidade neonatal canina. As malformações em cães podem ocorrer devido a fatores genéticos ou por ação de agentes teratogênicos durante a gestação. Os defeitos genéticos podem ser herdados de um ou ambos os pais, sendo mais comum em filhotes de raça pura, ou ainda ocorrerem por consaguinidade. Já os agentes teratogênicos como toxinas, fármacos, doenças infecciosas, influências mecânicas e irradiação, podem afetar a ninhada durante o desenvolvimento gestacional. A hipoplasia de costelas é relatada em recém-nascidos humanos, é uma malformação rara e letal de herança autossômica recessiva que impede a expansão torácica e reduz a complacência pulmonar, causando insuficiência respiratória. Uma cadela prenhe sem raça definida foi submetida à cesariana, ao nascimento um neonato apresentou sofrimento respiratório, à palpação do tórax presumiu-se ausência de costelas, o recém-nascido apresentava ainda fenda palatina e lábio leporino, e optou-se pela eutanásia do animal. No exame post-mortem foi diagnosticado hipoplasia de costelas e agenesia renal unilateral. Assim como encontrado no neonato canino, em recém-nascidos humanos a hipoplasia de costelas também está associada com outras malformações, como fenda labial e do palato e defeitos urogenitais. O presente relato descreve o primeiro caso de hipoplasia de costelas em neonato canino, associada com outras malformações, sendo a causa possivelmente relacionada a um fator genético hereditário.(AU)

VEPTR Implantation to Treat Children With Early-Onset Scoliosis Without Rib Abnormalities: Early Results From a Prospective Multicenter Study.

BACKGROUND: Thoracoplasty and insertion of vertical expandable prosthetic titanium rib (VEPTR) for thoracic and spine distraction has been found to be effective in the treatment of early-onset scoliosis (EOS) with ribs anomalies and congenital vertebral anomalies. The aim of this study was to evaluate the efficacy of VEPTR in preventing further progression of scoliosis without impeding spinal growth in children with progressive EOS without rib abnormalities. METHODS: This is a prospective, multicenter, observational cohort study. Erect radiographs were analyzed for coronal and sagittal curve and height measurements at preimplant, immediate postoperative, and at 2-year follow-up. RESULTS: Sixty-three patients met inclusion: 35 males and 28 females. Mean age at time of implantation was 6.1±2.4 years. Etiologies included congenital (n=6), neuromuscular (n=36), syndromic (n=4), and idiopathic (n=17). The mean follow-up was 2.2±0.4 years. Scoliosis (72±18 degrees) decreased after implant surgery (47±17 degrees) followed by slight increase at 2-year follow-up (57±18 degrees), P<0.0001. Kyphosis (48±22 degrees) also showed significant decrease after implantation (40±14 degrees), but increased after 2 years (48±16 degrees), P<0.0001. Coronal spine height measurements including T1-T12 (15.7±3 cm) and T1-S1 (25±6 cm) showed significant increases after implantation surgery (17.7±4 cm and 28.6±6 cm, respectively) and at 2 years (18.4±4 cm and 29.1±5 cm, respectively), P<0.0001. The increase in coronal spine height represented 144% of expected age-matched T1-T12 growth and 193% of expected age-matched T1-S1 growth. Similarly, sagittal spine length of T1-T12 and T1-S1 increased from 16.9±2.7 cm and 27.1±3.9 cm, respectively preoperatively to 19.7±3.5 cm and 31.9±5.1 cm, respectively at 2-year follow-up, P<0.0001. The instrumented spine segment continued growth from 25.8±5.2 cm after implantation to 27.4±5.3 cm at 2-year follow-up, P<0.0001. Thirty-one patients (49%) had at least 1 complication with total of 58 complications. CONCLUSIONS: At 2-year follow-up, VEPTR was effective in treating EOS without rib abnormalities with 86% of patients having an improvement in scoliosis and 94% of patients having an increased spinal height as compared with preoperative values. This study proved that spine continues to grow after VEPTR instrumentation during the distraction phase. This amount of growth represents about 40% for T1-T12 and 31% for T1-S1 spine of the expected age-matched growth based on Dimeglio reference numbers. We find this growth important as it proves continuous spine growth with VEPTR treatment. LEVEL OF EVIDENCE: Level II.

Parasol Rib Deformity in Hypotonic Neuromuscular Scoliosis: A New Radiographical Definition and a Comparison of Short-term Treatment Outcomes With VEPTR and Growing Rods.

STUDY DESIGN: Retrospective review of 2 multicenter national databases, Growing Spine Study Group and Chest Wall and Spine Deformity. OBJECTIVE: To derive an objective measure of parasol rib deformity from spine radiographs and to compare efficacy of rib-based (vertical expandable prosthetic titanium rib (VEPTR)) versus spine-based growing rods ("GR") instrumentation to improve parasol rib deformity and pulmonary function. SUMMARY OF BACKGROUND DATA: Children with low tone neuromuscular scoliosis often develop collapse of the rib cage ("parasol rib deformity") that may be associated with poor pulmonary function. METHODS: We compared patients with hypotonic neuromuscular scoliosis treated by VEPTR or GR with greater than 1 year follow-up. Preoperative and final spine radiographs were assessed for parasol rib collapse, spine asymmetry, and thoracic deformity. Multivariable analysis was performed on these measurements to identify the best descriptor of parasol rib deformity. Using this measurement, the ability of VEPTR versus GR to control parasol rib deformity was then compared. Assisted ventilation rating (AVR) at preoperative and final follow-up was compared between the 2 groups. RESULTS: Twenty-three patients treated with VEPTR (average age 6.7 years, average f/u = 3.3 years) were compared with 22 patients treated with GR (average age 7.7 years, average f/u = 2.9 years). The equation Parasol Score = (T6 convex hemithoracic width/T6 concave hemithoracic width) × (T6 thoracic width/T12 thoracic width) was the most accurate descriptor rib collapse (AUC = 0.927). Parasol Score was correlated with AVR. Parasol Score did not change over time for the patients treated with GR, but had a tendency to worsen for patients treated with VEPTR. AVR did not change significantly in either group. Spine deformity was better corrected using GR. CONCLUSION: Parasol rib deformity, measured on x-ray by the metric = (T6 width convex hemithorax/T6 width concave hemithorax)*(T6 thoracic width/T12 thoracic width), did not improve after treatment with VEPTR or GR. AVR did not change significantly in either group. LEVEL OF EVIDENCE: 4.

Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome).

Spondylospinal thoracic dysostosis can be considered a type of spondylocostal dysostosis because of the occurrence of vertebral defects (hemivertebrae and vertebral body fusion) and thoracic anomalies (short thorax and pulmonary hypoplasia). This syndrome was described by Johnson et al. (1997) in two siblings with dwarfism, short thorax, curved spine, fusion of the vertebrae and spinal process, multiple pterygium, and arthrogryposis. We describe the case of a 16-year-old Mexican girl with the longest survival recorded (the previous oldest patient was 7 years old) and analyze the natural history and describe some new features of this rare entity.

Prenatal effects of natural calcium supplement on Wistar rats during organogenesis period of pregnancy.

The potential of oral exposure to calcium and magnesium citrate, a natural product obtained from dolomite, to initiate teratogenesis was analyzed in Wistar rats. Animals received calcium and magnesium citrate oral doses of 250, 500 and 1000 mg/kg during the period of gestation from day 6 to 17 post conception. Maternal, embryo and fetal toxicity was evaluated. Calcium and magnesium citrate exposure did not produce maternal toxicity assessed by clinical observations, body weight gain, food intake, hematology, biochemical parameters and necropsy finding. Signs of embryo-fetal toxicity were not observed. Skeletal and visceral malformations were seen occasionally in all drug-treated and control groups. Skeletal and visceral variations were similar in control and drug-treated groups except for incomplete ossification rib. These finding was spontaneous and unrelated to the drug. In conclusion, in this study we found that the oral exposure to rats of up to 1000 mg/kg of calcium and magnesium citrate during organogenesis did not induce significant maternal and embryo-fetal toxicity. The experimentally derived NOAEL for developmental toxicity was 1000 mg/kg.

Costela intratorácica: relato de caso / Intrathoracic rib: a case report

Costela intratorácica é definida como uma anomalia congênita rara, possivelmente causada por uma fusão incompleta dos processos cefálico e caudal dos esclerótomos durante a embriogênese. Frequentemente é achado incidental, porém, pode estar associada a malformações vertebrais e a alguns sintomas como dor torácica. O quadro apresentado é de costela intratorácica à esquerda, associada a malformação vertebral, com quadro clínico inespecífico.

Intrathoracic rib is defined as a rare congenital anomaly, possibly caused by an incomplete fusion of cephalic and caudal processes of sclerotomes during embryogenesis. Frequently, such abnormality is incidentally found, but may be associated with vertebral malformation and some symptoms such as chest pain. The authors report the case of a patient with left-sided intrathoracic rib in association with vertebral malformation, with a non-specific clinical picture.

Thoracoscopic cartilage resection with partial perichondrium preservation in unilateral pectus carinatum: preliminary results.

BACKGROUND/PURPOSE: Although minimally invasive repair of pectus excavatum has gained worldwide acceptance, treatment of pectus carinatum is mostly performed with open procedures. Different minimally invasive alternatives have been proposed in the last few years, including subpectoral CO(2) dissection and intrathoracic compression (Abramson technique), or conservative procedures, as dynamic compression system. Recently, another surgical technique has been proposed for the treatment of unilateral pectus carinatum, consisting of a thoracoscopic approach and multiple cartilage incisions. The aim of this work is to present our modification to this approach. METHODS: We have modified this technique by introducing complete cartilage resection of all anomalous costal cartilages, performed thoracoscopically. Three thoracoscopic ports were used. Cartilage is removed progressively using a rongeur and preserving the anterior perichondrium. RESULTS: We have performed this technique in 4 patients during the last year. Follow-up ranged from 6 to 14 months. No intraoperative or postoperative complications were observed. The results, assessed by the patients themselves, were good in 2 cases, quite good in one, and fair in the first patient of our series, who was reoperated using a classical open approach. Pain was well controlled without the need of an epidural catheter. CONCLUSION: Thoracoscopic cartilage resection with perichondrium preservation can be considered as feasible alternative for the treatment of unilateral pectus carinatum.

Lateral thoracic expansion in a preterm baby with asphyxiating thoracic dystrophy.

Lateral thoracic expansion is a surgical technique which consists of increasing the diameter of the thoracic rib cage by the division of ribs and underlying tissue in a staggered fashion. To our knowledge, this procedure has not yet been described in preterm babies. We report a case of a 32-week preterm baby who was initially treated sequentially with resection of the costal cartilages and sternal spreading with the interposition of cartilage grafts, followed by left and right lateral thoracic expansion. The patient survived for 4 months after birth, showing that this procedure can be performed at any age after delivery.

Vertical expandable prosthetic titanium rib as treatment of thoracic insufficiency syndrome in spondylocostal dysplasia.

BACKGROUND: Spondylocostal dysplasia (SCD) constitutes a heterogeneous patient group with multiple vertebral formations and segmentation defects of the entire spine, with asymmetric rib malformations. Respiratory failure has been reported in spondylocostal dysplasia secondary to thoracic insufficiency syndrome. The vertical expandable prosthetic titanium rib (VEPTR) reconstructs the chest wall to address the thoracic insufficiency seen in this patient population. The purpose of this study is to evaluate spinal deformity correction and respiratory function outcomes in a spondylocostal dysplasia population treated with VEPTR. METHODS: A cohort of 20 patients with spondylocostal dysplasia and 2-year follow-up were evaluated from a multicenter IDE study of 214 patients who had surgery with the VEPTR device. Data collected included gender, nonskeletal malformations, age at surgery, number of procedures, estimated blood loss, length of stay, and surgical time. Clinical and radiographic parameters were collected, and respiratory function was assessed. RESULTS: In 14 of 20 patients (70%), spinal deformity was controlled evidenced by a decrease of the initial Cobb coronal angle at last follow-up. Fourteen patients (70%) maintained their oxygen level throughout treatment. At preoperative and last evaluation, assisted ventilation rating (AVR) scores showed that 5 patients improved their level of ventilation and 14 patients maintained their AVR level at room air. One patient decreased his level from supplemental oxygen to night ventilation. Mean thoracic spinal length (growth) by year was 0.82 cm. No mortality occurred in this group of patients. CONCLUSIONS: VEPTR implantation in SCD allows continued thoracic spine growth while controlling progressive spine deformity. The improved AVR ratings after surgery suggest a beneficial effect on the natural history of TIS in this population. Mortality and complication rate seem acceptable in this high-risk population of SCD patients. LEVEL OF EVIDENCE: Therapeutic study, Level IV, (case series, no comparison group).

[Four cases of Jarcho-Levin's syndrome in the province of Antioquia, Colombia]. / Reporte de cuatro casos de pacientes con síndrome de Jarcho-Levin en el departamento de antioquia, colombia.

Four cases of Jarcho-Levin's syndrome in the province of Antioquia, Colombia Jarcho-Levin's syndrome is a skeletal dysplasia with changes in the morphogenesis and costal vertebrae segmentation. It is manifested by hemivertebrae, fused vertebral bodies, absent vertebrae or fused ribs. This entity has also been called spondylo-costal or spondylo-thoracic dysplasia-dysostosis. This paper presents four cases evaluated at the Hospital University San Vicente de Paúl, Medellín, Colombia. Three had family origins in southwestern Antioquia and one in Medellin, indicating the possibility of a predisposing genetic allele with elevated frequency in this population. The clinical and radiological manifestations were described, a well as the most notable complications, such as restrictive lung disease with permanent oxygen requirement (all 4 patients) and portal hypertension etiology (1 patient). The latter has not been reported previously as a manifestation of this syndrome.

Disostose espôndilo-costal associada a defeitos de fechamento do tubo neural / Spondylocostal dysostosis associated with neural tube defects

OBJETIVO: Salientar a relação dos defeitos de fechamento do tubo neural com a disostose espôndilo-costal (DEC) por meio da descrição de três pacientes. DESCRIÇÃO DOS CASOS: Paciente 1: menina branca, 22 meses, nascida com mielomeningocele lombar. Na avaliação, apresentava hipotonia, baixa estatura, dolicocefalia, fendas palpebrais oblíquas para cima, pregas epicânticas e tronco curto com tórax assimétrico. A avaliação radiográfica revelou hemivértebras múltiplas, vértebras em borboleta e fusão e ausência de algumas costelas. Paciente 2: menina branca, 22 meses, com moderado atraso do desenvolvimento neuropsicomotor, baixa estatura, olhos profundos, pregas epicânticas, pescoço e tronco curtos com assimetria do tórax, abdome protruso, hemangioma plano na altura da transição lombossacra e fosseta sacral profunda no dorso. A avaliação radiográfica identificou hemivértebras, fusão incompleta de vértebras e vértebras em borboleta, malformações de costelas e espinha bífida oculta em L5/S1. Paciente 3: menina branca, 9 dias de vida, com fendas palpebrais oblíquas para cima, ponte nasal alargada, orelhas baixo implantadas e rotadas posteriormente, tronco curto, tórax assimétrico e meningocele tóraco-lombar. A avaliação radiográfica evidenciou hemivértebras, malformação e ausência de algumas costelas e agenesia diafragmática à esquerda. A tomografia computadorizada de encéfalo mostrou estenose de aqueduto. COMENTÁRIOS: Vários defeitos de fechamento do tubo neural, de espinha bífida oculta a grandes mielomeningoceles, são observados em pacientes com DEC, indicando que tais pacientes devem ser cuidadosamente avaliados quanto à possível presença desses defeitos.

OBJECTIVE: To highlight the relationship between neural tube defects and spondylocostal dysostosis (SCD) through the description of three patients. CASES DESCRIPTION: Patient 1: white girl, 22 months old, born with a lumbar meningomyelocele. At evaluation, she presented hypotonia, short stature, dolichocephaly, upslanting palpebral fissures, bilateral epicanthal folds, and short trunk with an asymmetric thorax. Radiographic examination showed multiple hemivertebrae, butterfly vertebrae, fusion and absence of some ribs. Patient 2: white girl, 22 months old, with moderate neuropsychomotor delay, short stature, deep set eyes, bilateral epicanthal folds, short neck and trunk with an asymmetric thorax, protruding abdomen, hemangioma at the level of lumbosacral transition and deep sacral dimple. The radiographic evaluation showed hemivertebrae, incomplete fusion of vertebrae and butterfly vertebrae, costal malformations and spina bifida occulta in L5/S1. Patient 3: white girl, nine days old, with upslanting palpebral fissures, broad nasal bridge, anteverted nostrils, low-set and posteriorly rotated ears, short trunk with asymmetric thorax, and thoracolombar meningocele. Radiographic evaluation showed several hemivertebrae, malformation, absence of some ribs, and diaphragmatic agenesia at left. Brain tomography showed an aqueductal stenosis. COMMENTS: Several neural tube defects, from spina bifida occulta to large meningomyelocele, are observed in patients with SCD. Thus, these patients should be carefully evaluated regarding the possible presence of such defects.