Jarcho-Levin syndrome term baby with recurrent apnea

Jarcho-Levin syndrome or spondylocostal dysostosis, is a rare axial skeleton anomaly due to mutation in genes involved in somitic segmentation during embryogenesis. We describe a term, newborn baby with antenatally detected midthoracic lordotic deformity with skeletal features of multiple rib anomalies and vertebral defects, but with normal limb lengths. Baby had recurrent apnea requiring non-invasive ventilation and was successfully weaned to room air within 2 days. This syndrome is underdiagnosed and we wish to highlight the simple process involved in making a clinico-radiological diagnosis.

Klippel-Feil syndrome with multiple skeletal anomalies, Dandy-Walker spectrum, and occipital cephalocele—a rare presentation

Background Klippel-Feil syndrome (KFS) is a congenital malformation causing fusion of at least two cervical vertebrae and characterized clinically by presence of triad of short neck, limited neck movements, and low posterior hair line. Various skeletal and non-skeletal anomalies may be seen in association with KFS. Case presentation We present a case of 6-year-old boy of KFS with various skeletal anomalies such as multiple segmentation and formation anomalies of the spine including anomalies of craniovertebral junction (CVJ), spina bifida occulta, scoliosis, Sprengel deformity of right shoulder, and multiple rib anomalies, as well as neurological anomalies like Dandy-Walker spectrum and atretic occipital cephalocele. Conclusion To the best of our knowledge, association of such extensive skeletal anomalies and Dandy-Walker spectrum with KFS has been uncommonly reported in the literature. This case highlights the importance of knowledge of various common and uncommon associations of KFS to avoid missing significant anomalies.

Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis

BackgroundCongenital scoliosis (CS) is a common vertebral malformation. Spondylocostal dysostosis (SCD) is a rare skeletal dysplasia characterised by multiple vertebral malformations and rib anomalies. In a previous study, a compound heterozygosity for a null mutation and a risk haplotype composed by three single-nucleotide polymorphisms in TBX6 have been reported as a disease-causing model of CS. Another study identified bi-allelic missense variants in a SCD patient. The purpose of our study is to identify TBX6 variants in CS and SCD and examine their pathogenicity.MethodsWe recruited 200 patients with CS or SCD and investigated TBX6 variants. We evaluated the pathogenicity of the variants by in silico prediction and in vitro experiments.ResultsWe identified five 16p11.2 deletions, one splice-site variant and five missense variants in 10 patients. In vitro functional assays for missense variants identified in the previous and present studies demonstrated that most of the variants caused abnormal localisation of TBX6 proteins. We confirmed mislocalisation of TBX6 proteins in presomitic mesoderm cells induced from SCD patient-derived iPS cells. In induced cells, we found decreased mRNA expressions of TBX6 and its downstream genes were involved in somite formation. All CS patients with missense variants had the risk haplotype in the opposite allele, while a SCD patient with bi-allelic missense variants did not have the haplotype.ConclusionsOur study suggests that bi-allelic loss of function variants of TBX6 cause a spectrum of phenotypes including CS and SCD, depending on the severity of the loss of TBX6 function.

Rib anomalies – a case and an overview of the literature.

Anatomic rib variants (numeric and structural) are reported to occur in less than 2 % of the general population and are rarely of any clinical significance. Frequently noticed developmental rib anomalies include fused and bifid ribs, cervical ribs and rib dysplasia. Occasionally they can cause problems when interpreting chest radiographs, therefore it is important for radiologists to be familiar with them and consider rib variants in differential diagnosis.The following case report presents an 88-year old female with a left bifid intrathoracic rib.

A Morphological Study of First Rib Anomalies

ABSTRACT Aim The present study was undertaken to observe the variations of the first rib and understand the significance of such variations. Materials and methods Fifty first ribs obtained from the Museum of Anatomy Department of Rohilkhand Medical College & Hospital, Bareilly, Uttar Pradesh, India, were studied to see if any anomaly was present and check its incidence in the Indian population sample and draw clinical and other signi­ficances of such variations. Results The findings are discussed and conclusions are drawn. Variations detected include absence of scalene tubercle, vascular groove on the superior surface, rudimentary head and tubercle of the rib, oblique ridge, and exostosis. Their incidence and significance are discussed. Conclusion The findings are of considerable clinical, regional, and racial significance. Clinical significance Structural malformations of first rib are common, and when present may lead to compression of the neurovascular bundle at the root of the neck. Awareness of such anomalies is important for anatomists, radiologists, and thoracic surgeons dealing with this region. How to cite this article Rashia S, Zaidi SHH. A Morphological Study of First Rib Anomalies. Int J Adv Integ Med Sci 2017;2(2):70-72.