p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.

Achondroplasia (ACH) and hypochondroplasia (HCH) are genetic bone disorders known to be caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Both conditions share radiographic and phenotypical features. HCH is a milder form of ACH. Most individuals with ACH have the recurrent mutation (p.Gly380Arg) in the transmembrane (TM) domain of the receptor and individuals with HCH show the common mutation (p.Asn540Lys) in the tyrosine kinase 1 (TK1) region. Other rare mutations have been reported, however no additional hot-spot has been identified. We report an 8-month-old infant, with the heterozygous mutation, c.1043C > G, leading to an amino acid change from serine at 348 to cysteine (p.Ser348Cys). Clinical diagnosis of the patient is intertwined with "mild ACH" or "severe HCH". He did not demonstrate acanthosis nigricans (AN). This mutation has been reported in two different patients and it is located in the Ig-III domain of the FGFR3 region near other mutations associated with ACH. Among the two the 8-year old one also demonstrated AN without evindece of hyperinsulinem. This report emphasizes the benefit of whole gene sequencing for FGFR3 in individuals with suspected "mild ACH/severe HCH". This child will be monitored for future occurrence of AN.

Radiographic Cobb Angle: A Feature of Congenital Lumbar Spine Stenosis.

PURPOSE: A low cost, reproducible radiographic method of diagnosing congenital lumbar spinal stenosis (CLSS) is lacking. We hypothesized that the Cobb angle for lumbar lordosis would be smaller in patients with CLSS, based on observations in our spine clinic patient population. Here, we compared lumbar lordosis Cobb angles with the radiographic ratio method in patients with normal spine imaging, degenerative spinal stenosis, and with CLSS. MATERIALS AND METHODS: Orthopedic surgeons categorized patients with low back pain as "Normal," "Degenerative spinal stenosis," and "CLSS" based on clinical presentation and findings on lumbar magnetic resonance imaging. We included 30 patients from each cohort who had undergone lateral lumbar spine radiographs and lumbar magnetic resonance imaging. For each lateral radiograph, 2 measurement methods were used (1) 4-line lumbosacral Cobb angle between L2-S1 and (2) the ratio of the anteroposterior vertebral body diameter and spinal canal anteroposterior diameter at the L3 level. We performed logistic regression analyses of CLSS prediction by Cobb angle vs the ratio method in all three cohorts. Covariates included age, gender, and body mass index. RESULTS: The radiographic Cobb angles were smaller in CLSS patients when compared to the degenerative disease and normal cohorts: a smaller radiographic Cobb angle showed higher odds ratio (OR) of predicting CLSS diagnosis compared to the radiographic ratio when compared with degenerative disease (OR = 0.28; 95% CI: 0.11-0.78, P = 0.01) and when compared with the normal cohort (OR = 0.46; 95% CI: 0.24-0.92, P = 0.03). Radiographic ratio measurements showed no difference between the three cohorts (P = 0.12). CLSS was associated with male gender (P = 0.04), younger age (P = 0.01), and higher body mass index (P = 0.01). CONCLUSION: The radiographic Cobb angle method for lumbar lordosis may be useful for raising the possibility of CLSS as the diagnosis.

Normative spino-pelvic parameters in patients with the lumbarization of S1 compared to a normal asymptomatic population.

INTRODUCTION: Normal spino-pelvic values for patients with lumbarization of S1 have not been described in the literature. Presented are the normal values for this population group, the prevalence of S1 lumbarization, and the correlation between pelvic incidence (PI) and lumbar lordosis (LL) in this group. METHODS: Two databases of asymptomatic patients were combined to identify 11 patients with the lumbarization of S1. The whole spine images were used to measure the true prevalence rate. Lumbar 3D EOS models were built to measure spino-pelvic parameters for the lumbarization group compared to the asymptomatic population. Seven patients appeared at first to have six lumbar vertebrae, but counting caudally from C2 showed this was not the case. RESULTS: 11/268 patients demonstrated the lumbarization of S1 to give a true prevalence rate of 4.1 %. The lumbarization group demonstrated a statistically significant difference with regard to PI, PT, and SS, and total lordosis measured from superior endplate of L1 to the superior endplate of the first fixed sacral segment. L6I was not significantly correlated to lordosis; however, PI did have a significant correlation with lordosis. Lordosis could be estimated in this group by the equation: [Formula: see text]. CONCLUSION: Incomplete imaging of the spine may lead to false estimation of the prevalence of lumbarization. Patients with lumbarization have higher lordosis values and lordosis can now be estimated during pre-operative planning for this group.

A case of severe and rigid congenital thoracolumbar lordoscoliosis with diastematomyelia presenting with type 2 respiratory failure: managed by staged correction with controlled axial traction.

INTRODUCTION: Congenital lordoscoliosis is an uncommon pathology and its management poses formidable challenge especially in the presence of type 2 respiratory failure and intraspinal anomalies. In such patients standard management protocols are not applicable and may require multistage procedure to minimize risk and optimize results. CASE DESCRIPTION: A 15-year-old girl presented in our hospital emergency services with severe breathing difficulty. She had a severe and rapidly progressing deformity in her back, noted since 6 years of age, associated with severe respiratory distress requiring oxygen and BiPAP support. She was diagnosed to have a severe and rigid congenital right thoracolumbar lordoscoliosis (coronal Cobb's angle: 105° and thoracic lordosis -10°) with type 1 split cord malformation with bony septum extending from T11 to L3. This leads to presentation of restrictive lung disease with type 2 respiratory failure. As her lung condition did not allow for any major procedure, we did a staged procedure rather than executing in a single stage. Controlled axial traction by halogravity was applied initially followed by halo-femoral traction. Four weeks later, this was replaced by halo-pelvic distraction device after a posterior release procedure with asymmetric pedicle substraction osteotomies at T7 and T10. Halo-pelvic distraction continued for 4 more weeks to optimize and correct the deformity. Subsequently definitive posterior stabilization and fusion was done. The detrimental effect of diastematomyelia resection in such cases is clearly evident from literature, so it was left unresected. A good scoliotic correction with improved respiratory function was achieved. Three years follow-up showed no loss of deformity correction, no evidence of pseudarthrosis and a good clinical outcome with reasonably balanced spine. CONCLUSION: The management of severe and rigid congenital lordoscoliotic deformities with intraspinal anomalies is challenging. Progressive reduction in respiratory volume in untreated cases can lead to acute respiratory failure. Such patients have a high rate of intraoperative and postoperative morbidity and mortality. Hence a staged procedure is recommended. Initially a less invasive procedure like halo traction helps to improve their respiratory function with simultaneous correction of the deformity, while allowing for monitoring of neurological deficit. Subsequently spinal osteotomies and combined halo traction helps further improve the correction, following which definitive instrumented fusion can be done.

Deletion of Mecom in mouse results in early-onset spinal deformity and osteopenia.

Recent studies have indicated a role for a MECOM allele in susceptibility to osteoporotic fractures in humans. We have generated a mutation in Mecom in mouse (termed ME(m1)) via lacZ knock-in into the upstream transcription start site for the gene, resulting in disruption of Mds1 and Mds1-Evi1 transcripts, but not of Evi1 transcripts. We demonstrate that ME(m1/m1) mice have severe kyphoscoliosis that is reminiscent of human congenital or primary kyphoscoliosis. ME(m1/m1) mice appear normal at birth, but by 2weeks, they exhibit a slight lumbar lordosis and narrowed intervertebral space. This progresses to severe lordosis with disc collapse and synostosis, together with kyphoscoliosis. Bone formation and strength testing show that ME(m1/m1) mice have normal bone formation and composition but are osteopenic. While endochondral bone development is normal, it is markedly dysplastic in its organization. Electron micrographs of the 1week postnatal intervertebral discs reveals marked disarray of collagen fibers, consistent with an inherent weakness in the non-osseous connective tissue associated with the spine. These findings indicate that lack of ME leads to a complex defect in both osseous and non-osseous musculoskeletal tissues, including a marked vertebral osteopenia, degeneration of the IVD, and disarray of connective tissues, which is likely due to an inherent inability to establish and/or maintain components of these tissues.

Spinal deformities in a wild line of Poecilia wingei bred in captivity: report of cases and review of the literature.

OBJECTIVE: To describe the occurrence of various spinal deformations in a captive-bred wild line of Poecilia wingei (P. wingei). METHODS: Fish belonging to a wild line of P. wingei caught from Laguna de Los Patos, Venezuela, were bred in an aquarium home-breeding system during a period of three years (2006-2009). The spinal curvature was observed to study spinal deformities in P. wingei. RESULTS: Out of a total of 600 fish, 22 showed different types of deformities (scoliosis, lordosis, kyphosis), with a higher incidence in females. Growth, swimming and breeding of deformed fish were generally normal. CONCLUSIONS: Possible causes for spinal curvature in fish are discussed on the basis of the current literature. While it is not possible to determine the exact cause(s) of spinal deformities observed in the present study, traumatic injuries, nutritional imbalances, genetic defects or a combination of these factors can be supposed to be involved in the pathogenesis of such lesions.

Lumbar hemivertebra in an adult treated by transpedicular osteotomy.

BACKGROUND: Hemivertebra frequently occurs in pediatric patients and is treated with vertebral excision to stop the progression of the deformity. A case of L3 hemivertebra associated with lumbar kyphoscoliosis in an adult is reported. CASE DESCRIPTION: A 46-year-old woman presented with severe chronic back pain of 6 years' duration. Radiologic examinations showed that the L3 vertebra had a trapezoidal shape revealing a partially segmented hemivertebra. RESULTS: The patient underwent a two-stage corrective surgery. The first stage consisted of a transpedicular osteotomy (TPO) with posterior instrumentation from L1 to L5 and a bone graft; 1 month later, anterior interbody fusions were performed at L2-3 and L3-4 using interbody cages and bone morphogenetic protein. No postoperative complication was reported after 2 years of follow-up. CONCLUSIONS: TPO improved clinical symptoms, corrected the spinal deformity, and reduced the lumbar kyphosis.

A case of schistosoma reflexum in a cat with chromosomal aberrations.

A 2-year-old, female Persian cat was presented with a history of distocia. In her first pregnancy, she had whelped four kittens and had eaten all of them right after parturition. She had mated again with the same tomcat. Well-developed foetuses with weak foetal heart beats were observed in the ultrasonographic examination. En block ovariohysterectomy was performed. Three live and mature foetuses were obtained from the uterus; two of them were female foetuses and had no anatomical problem but the third one exhibiting multiple malformations was a male and diagnosed as 'schistosoma reflexum' (SR). The vertebral column deviated markedly to the right (scoliosis) at thoracolumbar region, and the middle lumbar and the sacral vertebrae were directed dorsocranially (lordosis). The entire small intestine, a part of large intestine, stomach, spleen and the right kidney were displayed out of the body, and it seemed that the listed internal organs were protruded from an abdominal cleft associated with the allantoic membrane. Liver, lungs and heart were hypoplastic. The large intestine was seen to have blind end (atresia recti), but anus was normal. Cerebrum and cerebellum were noticed as normal in sizes. Chromosome preparations from lymphocyte cultures of the foetus showed chromosomal aberrations including chromatid and chromosome breaks, exchange figures, non-homologous pairing, whereas no abnormalities were detected in the chromosome preparations from mother's cultures. This is probably the first case of SR in a cat, which was examined in detail from clinical, pathological, radiological and chromosomal angles.

Congenital spine deformities: scoliosis, kyphosis, and lordosis.

By definition, congenital spine deformities-scoliosis, kyphosis, and lordosis-are due to abnormal vertebral development. Thus, affected children tend to have a curvature noted much earlier in life than typical patients with idiopathic scoliosis. This early development of the deformity has resulted in a tendency for the young child with congenital deformities to receive less than optimal care. These curves must not be allowed to progress. In many cases, early fusion is necessary, which is preferable to allowing severe curves to develop.

Jarcho-Levin syndrome: report on a long-term follow-up of an untreated patient.

Jarcho-Levin syndrome is a genetically transmitted rare entity characterized by multiple vertebral and rib anomalies. The multilevel skeletal involvement causes short stature, neck and thoracic cage deformities, and restrictive lung disease that is usually the cause of early death. The authors describe a 33-year follow-up of a patient with this syndrome who represents, to their best knowledge, the longest survival of a patient with this entity.

Surgical correction of congenital thoracic lordosis.

A 13-year-old girl with rigid congenital thoracic lordosis and congenital scoliosis was treated by a three-stage procedure of anterior transthoracic closing wedge osteotomies, posterior osteotomies of the laminar synostosis, correction of the deformity by sublaminar wires pulled back to a kyphotic bent Luque rod, and a later "pulling-out" procedure on the lateral chest wall.

Positioning of separated conjoined twins with scoliosis/lordosis.

Infantile scoliosis has a potential for progression. This paper discusses the use of a soft material to correct scoliosis in a medically stable, at-risk infant. It illustrates that early intervention is desirable in preventing the progression of the lateral curve of the trunk. It also illustrates that the three-point positioning principle can be effective with soft materials with an infant. Foam rubber blocks were used to apply pressure at three strategic points, the shoulder, the hip, and the convex curve on an infant's trunk. At the age of 7 months the infant was able to move herself into a normal position with good head and body alignment.

Lordosis torácica congénita / Congenital thoracic lardosis

La lordosis torácica congénita es una enfermedad rara, con pocas referencias bibliográficas. Constituye un defecto de segmentación posterior de la columna vertebral que ocasiona una curva de concavidad posterior en la columna torácica (lordosis). La columna vertebral se acerca al esternón, comprimiendo y desplazando estructuras del mediastino. Se presentan serios trastornos respiratorios que pueden llevar a la muerte, por lo cual debe tratarse precozmente. Nuestro tratamiento ha consistido: primeramente en una artrodesis de la columna, por abordaje anterior en el área afectada, luego estabilizamos por vía posterior con instrumental de Harrington, sin artrodesis, y finalmente un enyesado por diez meses