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Congenital scoliosis is the most frequent congenital deformity of the spine. Congenital curvatures are due to anomalous development of the vertebrae (failure of formation and/or segmentation). Congenital scoliosis is believed to be related to an insult to the fetus during spine embryological development, and associated malformations (heart, spinal cord,
M. Aebi, Th. Odent, V. Arlet
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Adolescent Idiopathic Scoliosis
Background: Scoliosis refers to deviation of spine greater than 10 degrees in the coronal plane. Idiopathic Scoliosis is the most common spinal deformity that develops in otherwise healthy children.
M. Choudhry, Z. Ahmad, Rajat Verma
semanticscholar +1 more source
Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier+7 more
wiley +1 more source
Does Minimally Invasive Spine Surgery Minimize Surgical Site Infections? [PDF]
Study DesignRetrospective review of prospectively collected data.PurposeTo evaluate the incidence of surgical site infections (SSIs) in minimally invasive spine surgery (MISS) in a cohort of patients and compare with available historical data on SSI in ...
Arvind Gopalrao Kulkarni+2 more
doaj +1 more source
THE TREATMENT OF SCOLIOSIS [PDF]
In treating scoliosis by means of orthopedic corsets I think that it is difficult to meet the two most important requirements, the one of giving a reliable and uniform support to a deformed spine, the position of which has been improved by mechanic or gymnastic treatment, and the other of exerting a correcting influence on certain parts of the body by ...
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Rapidly increasing incidence in scoliosis surgery over 14 years in a nationwide sample
PurposeSevere scoliosis is primarily managed with surgery. This cohort study describes the incidence of surgically treated scoliosis among Swedish youth and young adults, stratified by age, sex, scoliosis type, and surgical approach and identifies ...
J. Heideken, M. Iversen, P. Gerdhem
semanticscholar +1 more source
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan+4 more
wiley +1 more source
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
BACKGROUND Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis. METHODS We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls ...
N. Wu+56 more
semanticscholar +1 more source
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone+11 more
wiley +1 more source