Ellis van creveld syndrome: Cardiac anomalies and anesthetic implications.

Ellis-Van Creveld syndrome (EVC), also known as mesoectodermal dysplasia, is a rare autosomal recessive disorder with a tetrad of clinical features, comprising dwarfism, polydactyly, ectodermal dysplasia with sparse hair, hypoplastic nails and enamel, hypodontia and conical teeth and congenital heart disease (CHD). We report an 18-year-old girl with short stature and polydactyly, who got admitted to our hospital with shortness of breath on exertion for the last 2 years. On echocardiography, a partial atrioventricular canal (AV canal) defect was diagnosed, which was repaired surgically. The patient had an uneventful perioperative period.

Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details.

INTRODUCTION: Jeune's syndrome, or asphyxiating thoracic dystrophy (ATD), is a rare autosomal recessive disorder characterized by skeletal dysplasia. Ribs are typically short and horizontal resulting-in lethal variant-in severe lung hypoplasia, progressive respiratory failure, and death. Lateral thoracic expansion (LTE) consists in staggered bilateral ribs osteotomy leading to chest expansion and lung development. Studies on LTE in ATD patients report encouraging data, but the rarity of ATD implies the lack of a standardized surgical path. The aim of this report is to present our experience with LTE, the technical modification we adopted, and patients' clinical outcome. MATERIALS AND METHODS: We retrospectively reviewed data of 11 LTE performed in 7 ATD patients with lethal variant. Information regarding pre- and postoperative clinical conditions and surgical details was collected. We adopted a single-stage or a two-stage approach based on patient clinical condition. Computed tomography (CT) scan was performed before and after surgery and lung volume was calculated. RESULTS: Five patients are alive, while two died in intensive care unit for other than respiratory cause (sepsis). Most patients experienced clinical improvement in terms of decreased respiratory infections rate, need for ventilation, and improved exercise tolerance. Postoperative CT scan demonstrated a median lung volume increase of 88%. CONCLUSION: Mortality in ADT patients is high. However, LTE is a feasible and safe surgical approach, which could improve clinical conditions and survival rate. Survived patients showed postoperatively less oxygen requirement and improved clinical conditions.

Surgical Correction of Cardiac Defects with Ellis Van Crevald Syndrome - A Rare Case Report.

Ellis-Van Creveld (EVC) syndrome is an autosomal recessive disorder. Around 150 cases are described in published literature and in Bangladesh, it is even rare.  The patient usually comes with short stature, dental deformity, and cardiac deformity. Here, we present the case of a patient with ostium primum atrial septal defect (ASD) with moderate mitral regurgitation who underwent surgical repair of ASD and mitral valve replacement.

Prophylactic Decompression for Cervical Stenosis in Jeune Syndrome: Report From a Single Institution.

STUDY DESIGN: This is a level IV retrospective descriptive study at a single institution. OBJECTIVE: The objective of the study was to determine the preoperative signs or symptoms prompting cervicomedullary imaging in Jeune syndrome. SUMMARY OF BACKGROUND DATA: Jeune syndrome is a rare autosomal recessive disorder that results in pulmonary compromise from abnormal development of the thorax. Multiple medical comorbidities complicate timely diagnosis of cervicomedullary stenosis, which neurologically jeopardizes this patient population with regards to improper cervical manipulation. Currently, explicit screening of the cervicomedullary junction is not advocated in national guidelines. METHODS: The User Reporting Workbench and Center for Thoracic Insufficiency Syndrome (CTIS) Safety Registry was queried for patients with Jeune syndrome under the age of 18 with cervicomedullary stenosis with or without suboccipital craniectomy/craniotomy evaluated at the authors' institution from January 1, 2007 to August 21, 2018. The primary outcome was the clinical reason for cervicomedullary screening. Secondary outcomes were: age at time of surgery, preoperative myelopathy (spasticity, urinary retention), hydrocephalus, postoperative deficits (respiratory, motor, swallowing difficulty), and need for cervical fusion. RESULTS: Of 32 patients with Jeune syndrome, four (12.5%) had cervicomedullary stenosis requiring decompression. The average age at surgery was 5.25 months (2-9 mo). Two patients underwent imaging due to desaturation events while the other two patients were diagnosed with cervical stenosis as an incidental finding. No patients exhibited clinical myelopathy. Two patients had baseline preoperative swallowing difficulties. None of the patients postoperatively required cervical fusions, nor did they exhibit respiratory deficits, motor deficits, or worsening swallowing difficulties. CONCLUSION: Jeune patients should be routinely screened for cervicomedullary stenosis and undergo subsequent prophylactic decompression to minimize or eliminate the development of irreversible neurologic compromise. LEVEL OF EVIDENCE: 4.

Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum.

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.

Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome.

INTRODUCTION: Ellis-van Creveld syndrome is a rare condition associated with a very high incidence of congenital malformations of the heart. Prior reports have suggested increased morbidity and mortality following surgery for congenital malformations of the heart in patients with Ellis-van Creveld syndrome. MATERIALS AND METHODS: The Pediatric Health Information System database, an administrative database containing data from 43 free-standing paediatric hospitals in North America, was queried to search for patients with the diagnostic code for Ellis-van Creveld syndrome between 2004 and 2011. Those patients who underwent cardiac procedures were compared with those who did not with respect to measures of healthcare utilisation. RESULTS: A total of 138 admissions occurred in 93 patients with Ellis-van Creveld syndrome during the study period. Of these, 74% had an underlying diagnosis of congenital malformations of the heart. Half of the patients in the sample underwent a cardiac surgical or interventional catheterisation procedure. Patients who underwent a cardiac procedure had a longer hospital length of stay, higher incidence of intensive care unit admission, and higher total and per day hospital charges than patients who did not undergo cardiac surgery during admission. CONCLUSIONS: In a large group of inpatients with Ellis-van Creveld syndrome, the prevalence of congenital malformations of the heart was similar to that reported in prior studies. Cardiac surgical and interventional procedures appear to drive a substantial portion of healthcare utilisation in these patients.

One-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome).

OBJECTIVES: Jeune syndrome (asphyxiating thoracic dystrophy) is a rare disorder characterized by skeletal dysplasia, reduced diameter of the thoracic cage and extrathoracic organ involvement. Fatal, early respiratory insufficiency may occur. Two-stage lateral thoracic expansion has been reported, addressing each side sequentially over 3-12 months. While staged repair theoretically provides less invasive surgery in a small child with respiratory distress, we utilized a single stage, bilateral procedure aiming to rapidly maximize lung development. Combined bilateral surgery also offered the chance of rapid recovery, and reduced hospital stay. We present our early experience of this modification of existing surgical treatment for an extremely rare condition, thought to be generally fatal in early childhood. METHODS: Nine children (6 males, 3 females; median age 30 months [3.5-75]) underwent thoracic expansion for Jeune syndrome in our centre. All patients required preoperative respiratory support (5 with tracheostomy, 8 requiring positive pressure ventilation regularly within each day/night cycle). Two children underwent sequential unilateral (2-month interval between stages) and 7 children bilateral thoracic expansion by means of staggered osteotomies of third to eighth ribs and plate fixation of fourth to fifth rib and sixth to seventh rib, leaving the remaining ribs floating. RESULTS: There was no operative mortality. There were 2 deaths within 3 months of surgery, due to pulmonary hypertension (1 following two-stage and 1 following single-stage thoracic expansion). At the median follow-up of 11 months (1-15), 3 children have been discharged home from their referring unit and 2 have significantly reduced respiratory support. One child remains on non-invasive ventilation and another is still ventilated with a high oxygen requirement. CONCLUSION: Jeune syndrome is a difficult condition to manage, but bilateral thoracic expansion offers an effective reduction in ventilator requirements in these children. While two-stage repair has been described previously, this is the first report of single-stage bilateral thoracic expansion. Single-stage repair is feasible and may offer better resource management and significant cost savings by potentially reducing theatre usage and overall length of stay (intensive care and hospital) without compromising clinical outcomes.

Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.

Jeune syndrome (JS), or asphyxiating thoracic dystrophy, is a rare genetic disorder characterized by a small, narrow thorax, with associated shortening of limbs. Children with JS present with variable degrees of respiratory distress, frequently lethal in the neonatal period. Other associated complications include renal, hepatic, gastrointestinal, and retinal dysfunction. Management focuses on stabilization and support of respiratory function. Treatment may be palliative in nature or corrective. In recent years, the advance in surgical treatment of the thoracic hypoplasia in JS offers hope to those families with a child suffering from the syndrome. Even with increased research into treatment of this disorder, prognosis is usually poor. Comorbidities associated with JS lead to serious organ dysfunction in later years. Families who have a child with JS need genetic counseling and education focusing on the seriousness of the disorder, the risks and benefits of treatment, and the lifelong needs of those with JS.

Recurrent knee valgus deformity in Ellis-van Creveld syndrome.

We report a case of recurrent knee valgus deformity in a patient with Ellis-van Creveld syndrome. Varus osteotomy, distraction osteogenesis, or epiphyseal stapling is one treatment option for valgus malalignment to improve appearance, gait, and function. However, surgical correction of valgus knee deformity by varus osteotomies of the proximal tibia was not maintained postoperatively, necessitating additional varus osteotomies of the distal femur in this case. The main cause of recurrence was attributed to large bony defect of the anterior segment of the proximal tibia, in addition to depression of the lateral tibial plateau.

Vertical expandable prosthetic titanium rib device insertion: does it improve pulmonary function?

PURPOSE: Vertical expandable prosthetic titanium rib (VEPTR) insertion and expansion has been advocated to increase thoracic volume and pulmonary function in patients with thoracic insufficiency syndrome. We reviewed our experience with VEPTR implantation to determine if lung function and growth is augmented, to determine the children's functional status, and if the scoliosis is controlled. METHODS: From 2006 to 2010, 29 insertions and 57 expansions were performed in 26 patients at our institution. Demographic data were reviewed in conjunction with complications, scoliosis angles, pulmonary function tests (PFTs), and computed tomography-guided 3D reconstructions to determine lung volumes; and quality of life scores were determined using a modified Scoliosis Research Society (SRS) questionnaire preoperatively and postoperatively. The groups were also stratified by age (because of lung growth potential), disease (congenital or infantile scoliosis, Jeune syndrome, neuromuscular, other structural thoracic disorders), and sex. Analyses using SPSS (SPSS, Chicago, Ill) were performed with P < .05 considered significant. RESULTS: Each patient underwent 3.03 ± 1.8 surgeries, spending 0.97 ± 1.8 days in the intensive care unit and 4.41 ± 6 days in the hospital for each procedure. Mean age was 90.7 ± 41 months. Of the 36 complications, most were because of infection (12), half requiring operative repair (hardware removal). The average PFT percent predicted values for forced expiratory volume in 1 second, forced vital capacity, and RV were 54.6 ± 22, 58.1 ± 24, and 145.3 ± 112, respectively, preoperatively and 51.8 ± 20, 55.9 ± 20, and 105.6 ± 31, respectively, postoperatively. The lung volumes measured by computed tomography when corrected for age do not increase significantly postoperatively. The mean Cobb measurement for the preoperative major curves was 64.7° and postoperatively was 46.1° for those curves measured preoperatively, for a 29% curve improvement. All postoperative curves had a mean of 56.4° and 58.1° at final follow-up, a 3% curve increase. The SRS scores for patients remained unchanged and no statistical difference was seen from preoperative to postoperative values. No statistically significant difference was seen in complications, PFT (forced expiratory volume in 1 second, forced vital capacity, RV), lung volumes, scoliosis angles, and SRS scores between sex, age, and disease categories. CONCLUSION: There was mild improvement in scoliosis angles but no improvement in lung function and volume. Scoliosis Research Society scores indicate that the children have near normal function both before and after VEPTR placement. Pulmonary function, lung volume, and patient subjective assessments did not increase dramatically after VEPTR placement, although scoliosis angles improved.

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.

Sternoplasty and rib distraction in neonatal Jeune syndrome.

BACKGROUND: A 12-week-old boy with Jeune syndrome (asphyxiating thoracic dystrophy) was referred to the orthopaedic unit with progressive respiratory failure, recurrent respiratory tract infections, and recurrent admissions to the intensive care unit for ventilatory support. His chest x-ray revealed a small and narrow thoracic cage with short broad ribs and abnormal costal cartilages. His chest expansion was impaired by the short, horizontally positioned ribs resulting in alveolar hypoventilation. Without surgical intervention to expand his thoracic cage, he would die of respiratory failure. METHODS: Using the technique of distraction osteogenesis, we split his sternum and slowly expanded this split to a total of 3 cm using a Leibinger mid-face distractor allowing adequate wound healing and bone formation between the 2 sternal edges. He returned to the theater 4 weeks after his initial surgery to have the distractor removed and 2 Leibinger plates inserted to hold the sternum out to length. Sternal distraction was repeated and the sternum was then supplemented with a Leibinger mesh. At 8 months, he had successful expansion of his ribs bilaterally using this technique of distraction osteogenesis. RESULTS: Presently, the patient is 30 months old and is living at home, is not oxygen dependent, and continues to thrive. CONCLUSIONS: Jeune syndrome presenting with respiratory failure in the neonate is fatal without surgical intervention to expand the thoracic cage. No successful surgical techniques have been described in the literature for neonates. This is the first case in which distraction osteogenesis has been used to distract both sternum and ribs in an infant with Jeune syndrome. Hence, distraction osteogenesis in thoracic dystrophy is a novel approach in the neonate. LEVEL OF EVIDENCE: Case report.

Anaesthetic management of patient with Ellis Van Creveld syndrome.

A known case of Ellis-Van Creveld Syndrome was scheduled for emergency repair of obstructed paraumblical hernia. We describe the anaesthetic management of the case with special reference to the classic physical and physiological manifestations of this syndrome present in our patient.

[Surgical treatment of short stature of different etiology by the Ilizarov method]. / Chirurgiczne leczenie niedoboru wzrostu o róznej etiologii metoda Ilizarowa.

THE AIM OF THE STUDY: To evaluate the results of surgical short stature treatment with distraction osteogenesis using Ilizarov apparatus. MATERIAL AND METHODS: Since 1996 sixteen patients were treated surgically because of short stature (11 male and 5 female) at the age of 9 to 29 years (mean 15.2). The cause of short stature in 6 patients was achondroplasia, 2 - Ellis van Creveld, 2 - Ollier disease, 1 - spondylometaphyseal dysplasia, 1 - hypothyroidism, 1 - pseudoachondroplasia and constitutional short stature - in other 3 patients. The pre-operative height ranged between 103 cm to 155 cm (mean 125). 12 patients were treated by the crossing method, means in one stage lengthening of the femur and the tibia of the contralateral limb. In 4 cases lengthening and improvement of body proportion was achieved by lower leg lengthening only (one of them lengthened twice). In 9 cases treated with the crossing method complete procedure was finished, in other 3 - only the first stage. Results In all patients the planed segmental lengthening was achieved except one tibial segment in the most older patient. Achieved height increase ranged from 8 to 20 cm (mean 13.8), on femur level 6 to 10 cm (mean 8.3) while on tibia level 2 to 10.5 cm (mean 7.3). The lengthening index for the single segment ranged from 0.6 to 4.7 months/cm (mean 1.5). COMPLICATIONS: Severe limitation of knee joint range of motion (up to 50 degrees) needs quadriceps plasty in one case. Residual valgus deformity of the tibia in one case with Ellis van Creveld needs corrective osteotomy. Abnormal bony re-generate of the tibia in the oldest patient did not allows achieving the planed lengthening and leads to increasing the lengthening index up to 3 times. CONCLUSION: Increasing the height with Ilizarov method is effective however the treatment time is long, requiring strict patients cooperation. The risk of complications should makes the qualification to this treatment careful and precise.

Liver transplantation in Ellis-van Creveld syndrome: a case report.

This case represents a rare association of Ellis-van Creveld (EvC) syndrome, a chondroectodermal disorder, with congenital paucity of bile ducts. Sequential liver biopsies during the patient's childhood demonstrated progressive fibrosis that can occur in other chondrodysplastic malformations. However, this EvC case is the first report to demonstrate paucity of intra-hepatic bile ducts progressing to cirrhosis and subsequently requiring transplant.

Ellis-van Creveld syndrome associated with thymic hypoplasia.

A 16-month-old girl presented with the classic signs of Ellis-van Creveld syndrome. Mitral clefts were repaired by direct suturing. The single atrium was repaired by creating a new septum with a pericardial patch, leaving the coronary sinus in the left atrium. During perioperative exploration, thymic hypoplasia was recognized.