Spondylocostal Dysostosis Research Articles

A rare case of Sprengel deformity associated with spondylocostal dysostosis in a four-year child

Sprengel deformity is a complex congenital anomaly affecting one or both scapulae with mispositioning and dysplasia of scapula. It occurs due to failure of descent of scapula during intrauterine development and is the commonest congenital skeletal deformity of the scapula, often associated with other skeletal deformities. spondylocostal dysostosis is a rare genetic disorder which is characterized by malformation of the bones of the spine and ribs. It occurs in approximately 1 in 2,00,000 people worldwide. In spondylocostal dysostosis, affected children have wedge shaped vertebrae along with ribs that are fused, forked or sometimes missing. Based on the severity of the defect’s children may present with short stature, scoliosis or hypoplasia of lungs causing difficulty in breathing and recurrent respiratory tract infections. Management of both these skeletal deformities depends on their severity and the presence of associated deformities. Surgical intervention might be required for cosmetic and functional recovery of the shoulder. Authors had a rare and interesting case of a 4-year-old boy who had features of Sprengel deformity affecting left scapula which was associated with features of spondylocostal dysostosis.

A Cryptic Cause of Cardiac Arrest

BackgroundRIPPLY2-associated spondylocostal dysostosis is a rare disorder that leads to segmentation defects of the vertebrae. These vertebral defects can result in severe instability of the cervical spine, leading to cardiac arrest after only minor whiplash injury. Case ReportWe present the case of a healthy 7-year-old child who experienced an out-of-hospital cardiac arrest. He was reported to have profound respiratory distress and collapsed after going down a slide, without trauma. He was resuscitated in the field, and presented to the emergency department, where return of spontaneous circulation was achieved. Imaging of his cervical spine revealed multiple abnormalities. It was determined that a whiplash injury led to hypoxia and bradycardia due to the anatomic abnormalities of his cervical spine, resulting in cardiovascular collapse. He recovered fully and was later diagnosed with SCDO6, an autosomal recessive inherited disorder caused by a mutation in the RIPPLY2 gene. Why Should an Emergency Physician Be Aware of This?Unfamiliarity of providers with this mechanism of cardiac arrest, and the rarity of the syndrome itself, make early recognition very difficult. Late diagnosis and lack of preventative measures, including immediate cervical spine stabilization, can lead to catastrophic outcomes. In patients with cardiac arrest of unclear etiology, early consideration of cervical spine immobilization and evaluation can be lifesaving.

Butterfly Vertebrae: A Systematic Review of the Literature and Analysis.

Study Design:Systematic review (Level 4)Objective:To summarize the demographics, clinical presentations, and conditions associated with butterfly vertebrae.Methods:A systematic search was performed of multiple databases. A total of 279 articles were identified for screening. Case series or case reports of butterfly vertebrae with adequate clinical detail were complied.Results:Eighty-two total articles (109 patients) were selected for final inclusion. Sixty-one percent of patients presented with a single butterfly vertebra, while 39% were multiple. The most common location for butterfly vertebrae was T1. Fifty-six percent of cases were associated with a syndrome, the most common being spondylocostal dysostosis. The presence of multiple butterfly vertebra was strongly associated with a syndrome or additional anomalies (P < .001). Overall, the most common presenting complaint was low back pain. Seventy percent of patients had associated spinal disease. Other organ systems affected included musculoskeletal (43%), craniofacial (30%), neurologic (27%), cardiovascular (24%), genitourinary (23%), gastrointestinal (22%), laboratory abnormality (16%), and endocrine (9%).Conclusions:This study is the largest collection of butterfly vertebrae cases to date. Butterfly vertebrae are associated with spinal deformity and multiple butterfly vertebrae may indicate a syndromic illness. Low back pain or disc herniation may occur with lumbar butterfly vertebrae however the etiology of this phenomena has not been rigorously explained. Many diseases and syndromes are associated with butterfly vertebrae.

Screening of known disease genes in congenital scoliosis.

BackgroundCongenital scoliosis (CS) is defined as a lateral curvature of the spine due to the vertebral malformations and has an incidence of 0.5–1/1,000 births. We previously examined TBX6 in Japanese CS patients and revealed that approximately 10% of CS was caused by TBX6 mutations. However, the genetic cause of remaining CS is unknown.MethodsWe recruited 78 CS patients without TBX6 mutations and major comorbidities, and investigated the genes previously reported to be associated with CS and congenital vertebral malformations by whole‐exome sequencing.ResultsWe identified the compound heterozygous missense variants in LFNG in one patient. No likely disease‐causing variants were identified in other patients, however. LFNG encodes a GlcNAc‐transferase. The LFNG variants showed loss of their enzyme function.ConclusionsA LFNG mutation is reported in a case of spondylocostal dysostosis (SCD), a skeletal dysplasia with severe malformations of vertebra and rib. The CS patient with LFNG mutations had multiple vertebral malformations including hemivertebrae, butterfly vertebrae, and block vertebrae, and rib malformations. LFNG mutations may cause a spectrum of phenotypes including CS and SCD. The current list of known disease genes could explain only a small fraction of genetic cause of CS.

Diagnóstico prenatal del síndrome de Jarcho-Levin

El síndrome de Jarcho-Levin es una rara entidad heterogénea caracterizada por dismorfia facial, extremidades de tamaño normal con cuello y tronco corto, múltiples anomalías vertebrales en todos los niveles de la columna vertebral y defectos costales. El síndrome se ha clasificado en 2 fenotipos clínicos principales, según la extensión y distribución de las anomalías esqueléticas, el patrón de herencia y el pronóstico. El diagnóstico ecográfica prenatal se caracteriza por la presencia de costillas desplegadas a partir de cuerpos vertebrales torácicos fusionados. Debido a la rareza de esta condición, existe un número limitado de informes en la literatura científica y muy pocos se diagnostican prenatalmente. Es un caso de síndrome de Jarcho-Levin en una mujer de 16 años con embarazo de 31 semanas y sin antecedentes patológicos prominentes. La ecografía reveló feto único con datos biométricos compatibles con 27 semanas. Se observó columna vertebral acortada con deformidad extrema y escoliosis moderada, canal medular ancho, segmentación de cuerpos vertebrales en las áreas torácicas y lumbares inferiores, aumento de la distancia intervertebral con tórax corto y estrecho, cuello corto hiperflexionado y occipucio que parecía fusionarse con las vértebras cervicales. Se realizó cesárea debido a sufrimiento fetal agudo, obteniendo recién nacido masculino. El examen físico mostró circunferencia cefálica normal, tórax corto, cuello corto y rígido, cifoescoliosis torácica con restricción del patrón respiratorio y abdomen abultado. No se observaron alteraciones faciales o craneales. Después de 4 días, el recién nacido muere debido a falla respiratoria aguda.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

BackgroundSegmentation defects of the vertebrae (SDV) are non-specific features found in various syndromes. The molecular bases of SDV are not fully elucidated due to the wide range of phenotypes and...

Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient

Introduction Patients with spondylocostal dysostosis (SCD) have congenital spine and rib deformities associated with frequently severe thoracic insufficiency and respiratory compromise. The literature is largely composed of case reports and small cohorts, and there is little information regarding adults with this condition. In this report, we describe the natural history of a conservatively treated patient and include quality-of-life issues such as childbearing, athletic participation, and occupational selection. Case Presentation We present a patient with SCD who was conservatively treated by a single physician from birth for 31 years. Our patient was capable of a reasonably good quality of life through adulthood, including participation in gymnastics and employment. At age 18, she became pregnant and subsequently terminated the pregnancy due to obstetrical concerns for compromised respiration. She has had intermittent respiratory complaints and occasionally experiences dyspnea with exertion, but this only has limited her during certain activities in the past three years. Currently, she takes naproxen for chronic back pain with periodic exacerbations. Discussion Other cases in the literature have described adult SCD patients who have received nonoperative treatment and achieved a wide range of functional outcomes. This provides some limited evidence to suggest that select patients with SCD may be treated conservatively and achieve a reasonable quality of life. However, close clinical follow-up with these patients is recommended, particularly early on, considering the high rates of infant morbidity and mortality. Chest physiotherapy and early pulmonary care have been associated with favorable outcomes in infancy. Surgery to increase thoracic volume and correct scoliosis has been shown in some cases to improve respiratory function. Treatment depends on the degree of thoracic insufficiency and quality of life. The natural history of SCD remains largely unknown, but some patients are capable of relatively favorable life spans, employment, and participation in athletics.

Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review

Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis, and meningomyelocele. We describe a spondylocostal dysplasia form of Jarcho-Levin syndrome that was prenatally diagnosed at 11 weeks of gestation and surviving. Although the patient had sporadic-type Jarcho- Levin syndrome, with normal karyotype and no family history of disease, the assessment of inheritance patterns and genetic counseling for the parents was important to inform them about the potential risks.

Spondylocostal dysostosis with severe ARDS and review of literature

Spondylocostal dysostosis with severe ARDS and review of literature

Sonographic Criteria for Diagnosing Jarcho-Levin Syndrome

This is a case study of Jarcho-Levin syndrome, which is a rare genetic disorder described as a malformation of bones in the spinal column and the ribs. This disorder can be an autosomal recessive or dominant trait. Those affected by this disorder have respiratory insufficiency and potentially other abnormalities. Recurrent respiratory infections are expected. In milder cases, surgery is a possibility, but in severe cases, prognosis is poor. OB sonography can aid in diagnosis of Jarcho-Levin syndrome in patients with no known family history of the disease, but it is particularly helpful in known at-risk cases.

The developmental biology of genetic Notch disorders.

Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function results in Hajdu-Cheney syndrome, serpentine fibula polycystic kidney syndrome, infantile myofibromatosis and lateral meningocele syndrome. Furthermore, structure-abrogating mutations in NOTCH3 result in CADASIL. Here, we discuss these human congenital disorders in the context of known roles for Notch signaling during development. Drawing on recent analyses by the exome aggregation consortium (EXAC) and on recent studies of Notch signaling in model organisms, we further highlight additional Notch receptors or ligands that are likely to be involved in human genetic diseases.

Infant of a Diabetic Mother with Spondylocostal Dysostosis and Multiple Congenital Anomalies

Infant of a Diabetic Mother with Spondylocostal Dysostosis and Multiple Congenital Anomalies

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.

Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6. These observations questioned both on the inheritance mode and on the variable expressivity associated with TBX6-associated SDV. Based on a national recruitment of 56 patients with SDV, we describe four patients with variable SDV ranging from CS to SCD associated with biallelic variations of TBX6. Two patients with CS were carrying a proximal 16p11.2 microdeletion associated with the previously reported haplotype. One patient with extensive SDV was carrying a proximal 16p11.2 microdeletion associated with a TBX6 rare missense change. One patient with a clinical diagnosis of SCD was compound heterozygous for two TBX6 rare missense changes. The three rare variants were affecting the chromatin-binding domain. Our data illustrate the variable expressivity of recessive TBX6 ranging from CS to SCD.

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.

Congenital scoliosis (CS) occurs as a result of vertebral malformations and has an incidence of 0.5-1/1,000 births. Recently, TBX6 on chromosome 16p11.2 was reported as a disease gene for CS; about 10% of Chinese CS patients were compound heterozygotes for rare null mutations and a common haplotype defined by three SNPs in TBX6. All patients had hemivertebrae. We recruited 94 Japanese CS patients, investigated the TBX6 locus for both mutations and the risk haplotype, examined transcriptional activities of mutant TBX6 in vitro, and evaluated clinical and radiographic features. We identified TBX6 null mutations in nine patients, including a missense mutation that had a loss of function in vitro. All had the risk haplotype in the opposite allele. One of the mutations showed dominant negative effect. Although all Chinese patients had one or more hemivertebrae, two Japanese patients did not have hemivertebra. The compound heterozygosity of null mutations and the common risk haplotype in TBX6 also causes CS in Japanese patients with similar incidence. Hemivertebra was not a specific type of spinal malformation in TBX6-associated CS (TACS). A heterozygous TBX6 loss-of-function mutation has been reported in a family with autosomal-dominant spondylocostal dysostosis, but it may represent a spectrum of the same disease with TACS.

Jarcho-Levin syndrome (spondylocostal dysostosis) associated with Sprengel deformity

Jarcho-Levin syndrome (spondylocostal dysostosis) associated with Sprengel deformity

Nöral tüp defekti bulunan spondilotorasik dizositoz tip Jarcho-Levin sendromu: Bir olgu sunumu

Jarcho-Levin syndrome is rare a congenital disorder characterized by numerical and structural costo-vertebral abnormalities. The subtypes of this syndrome are, spondylothoracic and spondylocostal dysostosis. Rib and vertebrae aberrations cause respiratory insufficiency and result in recurrent respiratory infections. Since it is a rare entity, a newborn diagnosed as spondylothoracic dysostosis with meningomyelocele, who had ventriculoperitoneal shunting due to severe hydrocephalus and could not be weaned from respiratory support due to chest deformity, is presented in this case report.

Spondylocostal dysostosis and acute cholangitis in pediatrics emergency room

Abstract Background Congenital malformations of the chest wall comprise a heterogeneous group of diseases denominated spondylocostal dysostosis. They have in common developmental abnormalities in the morphology of the structures of the chest and vertebrae with a broad characterization: from mild deformity without functional consequences to life-threatening injuries. We present the case of a girl with spondylocostal dysostosis and acute cholangitis. Case report A 13-month-old female patient with severe malnutrition, history of hydrocephalus and myelomeningocele at birth was admitted in the pediatric emergency room with fever and progressive respiratory distress. Clinical assessment revealed ribs and vertebral malformations and acute cholangitis. Conclusions Complex rib abnormalities consist in deformities of the chest wall, which do not have a particular pattern and are extremely rare. When they are associated with myelomeningocele and hydrocephalus, they may be considered as autosomal recessive inheritance spondylocostal dysostosis. The diagnosis is established by clinical assessment and X-rays. Spondylocostal dysostosis identification and complications related to their genetic and molecular causes are still a challenge for the clinical pediatricians and the multidisciplinary medical team who treats these patients throughout lifetime.

Anesthetic Management of a Patient With Jarcho-Levin Syndrome

Jarcho-Levin syndrome (JLS) is a rare disease involving costovertebral anomalies and is accompanied by hydrocephalus, neural tube defect, and cardiac, renal and gastrointestinal problems. Due to respiratory system pathologies, there is a high mortality rate at young ages. Due to its rarity and little information in the literature related to anesthetic practice for this syndrome, we present our anesthetic experience of inguinal hernia surgery in a patient with JLS.

Jarcho-Levin Syndrome – A Case Report

Jarcho- Levin Syndrome is an eponym that represents a spectrum of short trunk skeletal dysplasia with variable involvement of the vertebrae and ribs. Initialy considered to be lethal, it is now accepted as compatible with life in its milder presentations. Neural tube defect is a rare association in Jarcho-Levin Syndrome. Here we report a case of Jarcho- Levin Syndrome with meningomyelocele in a newborn.J Bangladesh Coll Phys Surg 2015; 33(4): 222-224

Vertical Expandable Prosthetic Titanium Rib (VEPTR) Complications

Introduction This retrospective study evaluates the complications and radiographic results of 30 patients treated with VEPTR for correction of complex spine deformities in children. Material and Methods 30 cases of spine deformities followed up for a minimum of 2 year and maximum of 7 years, were retrospectively reviewed. 8 congenital malformation of spine, 3 infantile scoliosis and the others were spinal deformities associated with; spinal cord tumors, osteogenesis imperfecta, Jarcho Levin syndrome, spinal muscular atrophy, arthrogriphosis, myelomeningocele and congenital myopathy. The age at surgery varied between 2 and 12 years (6.65). We studied the postoperative change in cobb's angels (in antero-posterior and lateral views), space available for lung (SAL) and complication patterns in relation to number of lengthening operations. Results Complications: the complications rate was (36.6%). Complications varied from mortality “one case (3.3%)” to skin sloughing, surgical site infection, junctional kyphosis, metal failure, and pelvic hook migration. The average Cobb's angles preoperatively in the antero-posterior view were 86.8°, while the postoperative average was 55° (average correction 31.8°). The average (SAL %) was 82.3% preoperatively, and has been improved to become 93.5% postoperatively. Conclusion VEPTR represents a good alternative to “spine to spine growing rod techniques” and vertebral column resections “VCR” in spite of its complications rate with regard to the nature of deformity and number of “lengthening reoperations,” however it should be used in well selected cases.