Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome by Qing Shao, Qiang Jiang, Yuqi Luo, Yimei Meng, Guoyu Tian, Xiao Yin

“…The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.Methods and resultsWe present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, prominent ears, short stature, low hairline, delayed cognitive development, and scoliosis. Whole exome sequencing identified a novel frameshift variant in the ANKRD11 gene which ultimately led to the diagnosis of KBG syndrome.ConclusionIn this study we have identified a previously unreported frameshift variant (NM_013275.6:c.2589dup) in ANKRD11 that causes KBG syndrome. …”
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Delayed Post-Traumatic Spinal Cord Infarction with Quadriplegia: A Case Report by Tae Hoon Kim

“…Spinal cord infarction or ischemia has been reported after cardiovascular interventions, scoliosis correction, or profound hypotension. In this case, a 52-year-old man revisited the emergency center with motor and sensory abnormalities in all four extremities 56 hours after a motor vehicle collision. …”
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GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report by Joonhwan Lee, Byungju Ryu, Yunhee Kim, Eunyoung Lee

“…His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. …”
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A case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome by QingHua Liu, Ganhua Zeng, Yu Xiong, Chenyang Xu

“…These subtypes present with a wide range of clinical manifestations and severities, including frequent joint dislocations, scoliosis, arterial dissections, and organ ruptures. …”
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Targeting to BMP9 to restrain flare-up of fibrodysplasia ossificans progressiva by Qiwen Li, Quan Yuan

“…Due to heterotopic bone formation in various organs, patients experience intense pain, restricted mobility, difficulty with eating and speaking, hearing loss, scoliosis, and impaired pulmonary function. The average lifespan for individuals with FOP is around 40 years. …”
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Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings by Shishir Ram Shetty, Deepa Dsouza, Subhas Babu, Preethi Balan

“…Besides bone fragility, features like laxity of the ligaments, blue sclera, growth retardation, and scoliosis are also observed. In severe cases, respiratory distress and death have been reported. …”
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Effect of individual spinal muscle activities on upright posture using a human body finite element model by Yuko Nakahira, Masami Iwamoto, Tatsuya Igawa, Ken Ishii

“…Abstract The occurrence of diseases characterized by irregular spinal alignment, such as kyphosis, lordosis, scoliosis, and dropped head syndrome (DHS) is increasing, particularly among older adults. …”
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Migration of the Anterior Spinal Rod to the Right Thigh, a Rare Complication of Anterior Spinal Instrumentations: A Case Report and a Literature Review by Camino Willhuber Gaston, Taype Zamboni Danilo, Carabelli Guido, Barla Jorge, Sancineto Carlos

“…Posterior and anterior fusion procedures with instrumentation are well-known surgical treatments for scoliosis. Rod migration has been described as unusual complication in anterior spinal instrumentations; migration beyond pelvis is a rare complication. …”
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Pathology Survey on a Captive-Bred Colony of the Mexican Goodeid, Nearly Extinct in the Wild, Zoogoneticus tequila (Webb & Miller 1998) by Alessio Arbuatti, Leonardo Della Salda, Mariarita Romanucci

“…Encountered diseases included the following: 7 cases of scoliosis (2 males and 5 females); 2 fish with a similar congenital deviation of ocular axis; 1 adult male with left corneal opacity, presumably of traumatic origin; 1 female fish with a large subocular fluid-filled sac, histologically referable to a lymphatic cyst, similarly to the eye sacs of a Goldfish variety (Carassius auratus) called bubble eye; and 1 female fish with recurrent abdominal distension consequent to distal bowel dilation and thinning, associated with complete mucosal atrophy, and comparable to intestinal pseudo-obstruction syndromes described in humans and various animal species. …”
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Adult Hip Flexion Contracture due to Neurological Disease: A New Treatment Protocol—Surgical Treatment of Neurological Hip Flexion Contracture by Alberto Nicodemo, Chiara Arrigoni, Andrea Bersano, Alessandro Massè

“…Paraplegia can couse hip flexion contracture and, consequently, pressure sores, scoliosis, and hyperlordosis; lumbar and groin pain are strictly correlated. …”
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Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature by Phirarthana Kamalanathan, Meranthi Fernando, Rohan Jayawardena, A. Upasena, Shaman Rajindrajith, Sachith Mettananda

“…We report a 7-year-old Sri Lankan girl with spondylocostal dysplasia presenting with short stature and scoliosis. Disproportionate short stature was noted with short upper segment and small thoracic cavity. …”
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Remdesivir-induced severe hypoglycemia in an elderly man without diabetes: a case report by Yasunori Nagano, Hisae Aoki, Juri David, Naoko Iwahashi Kondo, Makimi Aizawa, Toshiyuki Sumita, Yuki Hamada, Yuki Yamamoto, Kaoru Yamada

“…The patient’s medical history included surgery for posterior correction of scoliosis, Chiari malformation type I, and syringomyelia. …”
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Pediatric Extramedullary Epidural Spinal Teratomas: A Case Report and Review of the Literature by David G. Deckey, Andrea Fernandez, Nina J. Lara, Steve Taylor, Jamal McClendon, David M. Bennett

“…A 7-month-old, previously healthy male presented with a thoracic scoliosis and an asymptomatic right midupper thoracic spinal prominence present since birth. …”
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Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases by Fernando De Maio, Alessandro Fichera, Vincenzo De Luna, Federico Mancini, Roberto Caterini

“…In 88 patients (60.2%), the associated “wrist and thumb sign” was present; in 58 patients (39.7%), pectus carinatum deformity; in 44 patients (30.1%), pectus excavatum; in 49 patients (33.5%), severe flatfoot; in 31 patients (21.2%), hindfoot deformity; in 54 patients (36.9%), reduced US/LS ratio or increased arm span-height ratio; in 37 patients (25.3%), scoliosis or thoracolumbar kyphosis; in 22 patients (15%), reduced elbow extension (170° or less). …”
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Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features by Jennifer L. Roberts, Stephanie K. Gandomi, Melissa Parra, Ira Lu, Chia-Ling Gau, Majed Dasouki, Merlin G. Butler

“…We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. …”
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Diagnosis and management of de novo non-specific spinal infections: European Association of Neurosurgical Societies (EANS) Spine Section Delphi consensus recommendations by Andreas Kramer, Santhosh G. Thavarajasingam, Jonathan Neuhoff, Benjamin Davies, Giuseppe Barbagallo, Bertrand Debono, Bart Depreitere, Sven O. Eicker, Nikolay Gabrovsky, Marisa L. Gandia-Gonzalez, Marcel Ivanov, Radek Kaiser, Stanislav Kaprovoy, Nikolay Konovalov, Jesus Lafuente, Andrzej Maciejczak, Bernhard Meyer, Paulo Pereira, Yana Petrova, Wilco C. Peul, Carla Reizinho, Yu-Mi Ryang, Nico Sampron, Ralph Schär, Enrico Tessitore, Claudius Thomé, Jake Timothy, Carmen Vleggeert-Lankamp, Andreas K. Demetriades, Ehab Shiban, Florian Ringel

“…For spinal deformity and instability, thresholds such as kyphosis >20°, scoliosis >10°, and vertebral body collapse >50% were established to guide surgical decision-making. …”
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A scoping review of biopsychosocial risk factors and co-morbidities for common spinal disorders. by Bart N Green, Claire D Johnson, Scott Haldeman, Erin Griffith, Michael B Clay, Edward J Kane, Juan M Castellote, Shanmuganathan Rajasekaran, Matthew Smuck, Eric L Hurwitz, Kristi Randhawa, Hainan Yu, Margareta Nordin

“…Risk factors were reported for group 1: non-specific low back pain (smoking, overweight/obesity, negative recovery expectations), non-specific neck pain (high job demands, monotonous work); group 2: degenerative spinal disease (workers' compensation claim, degenerative scoliosis), and group 3: spinal tuberculosis (age, imprisonment, previous history of tuberculosis), spinal cord injury (age, accidental injury), vertebral fracture from osteoporosis (type 1 diabetes, certain medications, smoking), and neural tube defects (folic acid deficit, anti-convulsant medications, chlorine, influenza, maternal obesity). …”
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Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and... by Holly Lumgair, Lisa Bashorum, Alasdair MacCulloch, Elizabeth Minas, George Timmins, Drago Bratkovic, Richard Perry, Medi Stone, Vasileios Blazos, Elisabetta Conti, Raymond Saich

“…Difficulty swallowing, speaking, and scoliosis were the most burdensome symptoms reported by those on ERT for >15–25 years. …”
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Pyogenic Lumbar Facet Joint Infection with Foot Drop by Haruka Maehara, Toshihiro Sano, Yuki Yanagawa, Kyuichi Hashimoto, Nobuaki Tadokoro

“…The patient was a 44-year-old woman who had a previous history of orthotic therapy for idiopathic scoliosis. The patient was admitted to our hospital with a history of two days of high fever and severe low back pain. …”
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Hidden cause of paralysis: tight filum terminale in spinal cord injury without radiographic abnormality by Yi Yuan, Yi Yuan, Zong Jian An, Fei Gao, Zhi Hui Li, Wei Li Xu, Yong Sun

“…One patient developed scoliosis and another presented with neurogenic bladder.ConclusionTethered cord syndrome may be a potential underlying cause of SCIWORA. …”
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