¹⁸F-FDG PET/CT and Whole-Body Bone Scan Findings in Gorlin–Goltz Syndrome by Miju Cheon, Jang Yoo, Kyu-Bok Kang

“…We present the compelling whole-body bone scan and ¹⁸F-FDG PET/CT findings in a 32-year-old man with odontogenic keratocyst, early-onset basal cell carcinoma, multiple ectopic calcifications in extremities, calcified falx cerebri, spinal scoliosis, macrocephaly, and ocular hypertelorism.…”
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Dejerine-Sottas syndrome with early onset in childhood by Diana Epure, Ana-Maria Geanta, Daniela Vasile, Daniel Teleanu, Raluca Teleanu

“…The clinical course is severe, leading to sensory loss, distal followed by proximal weakness, foot deformities, scoliosis and contractures, cranial nerve deficits and occasionally spinal cord compression. …”
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Structural and functional peculiarities of spine deformity development in neurofibromatosis NF-1 by A. M. Zaidman, M. V. Mikhailovsky, Ye. L. Zaviyalova, V. A. Suzdalov, M. A. Sadovoy

“…To study pathogenetic mechanisms of the development of spinal deformity in neurofibromatosis.Structural components of the spine were presented as specimens obtained after surgical correction of spinal deformity performed in 10 children with III—IV grade scoliosis associated with neurofibromatosis.Etiologic factor of the development of spinal deformity in neurofibromatosis is a mutation of the NF-1 gene in cells of ganglious lamella. …”
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Connective tissue dysplasia as a risk factor for adnexal torsion in adolescent girls by Salome Kiebashvili, Iryna Tuchkina

“…At the same time, some patients had a combination of several pathologies disorders of the musculoskeletal system. Thus, scoliosis and flat feet were simultaneously diagnosed in 9 (21.4%) adolescents of the clinical group and only in 2 (6.6%) adolescents in the control group (p<0.05). …”
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Cadaveric kidney transplantation in an ESRD patient with Klippel–Feil syndrome—A case report by Hossein Dialameh, Farshad Namdari, Farhad Etezadi, Seyed Hassan Inanloo, Seyed Hamid Mousavi, Hormat Rahimzadeh, Mohammad Javad Nazarpour

“…We report a case of KFS with associated anomalies such as short neck, limitation of neck movement, scoliosis of cervical spine, and dextrocardia who received successful cadaveric kidney transplantation. …”
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Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8 by Julio César Alcántara-Montiel, Brittany Itzel Vega-Torres

“…Hyper-IgE syndrome in its dominant form includes non-immunological manifestations like characteristic facies, pathological dentition, scoliosis, bone disorders, and joint hyperextensibility. …”
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A Case of Mayer-Rokitansky-Kuster-Hayser Syndrome with Absence of the Right Thumb by Pal Ranabir, Manglik Arun, Sinha Neloy

“…A 14-year-old feminine adolescent, presented with congenital absence of right thumb, scoliosis, severe anemia, primary amenorrhea without secondary sexual characteristics, except for normally developed breasts. …”
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Operative Management of a Complicated Intercostal Arteriovenous Malformation in a Pediatric Patient: A case report by Héctor Quintero-Álvarez, MS, Zasha Vázquez-Colón, MD, Victor N. Ortiz-Justiniano, MD, FAPSA, FACS, FAAP

“…There were no complications in the postoperative period and the patient was discharged with minimal compensatory scoliosis and no functional impairment.…”
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King-Denborough Syndrome: report of two Brazilian cases by Umbertina Conti Reed, Maria Bernardete Dutra Resende, Lúcio Gobbo Ferreira, Mary Souza Carvalho, Aron Diament, Milberto Scaff, Suely Kazue Nagahashi Marie

“…We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. …”
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Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases by Judith Van Wynsberghe, Olivier M. Vanakker

“…In this respect, the axial skeletons of zebrafish have been a good read-out for congenital spinal deformities such as scoliosis and degenerative disorders such as osteoporosis and osteoarthritis, in which aberrant mineralization in humans is reflected in the respective zebrafish models. …”
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THE COURSE OF PREGNANCY AND CHILDBIRTH WITH ABNORMAL DEVELOPMENT OF THE GENITALS (TWO-HORNED UTERUS) by Нона Марковна Шибельгут, Наталья Анатольевна Батина, Светлана Ивановна Елгина, Вадим Гельевич Мозес, Елена Владимировна Рудаева, Анна Александровна Железная

“…Along with anomalies of the genitals, in 40 % of cases there are anomalies of the urinary system (unilateral kidney agenesis), intestines (atresia of the anus), bones (congenital scoliosis), as well as congenital heart defects. The presented article describes a clinical case of pregnancy and childbirth.…”
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The Pilates method in the rehabilitation of musculoskeletal disorders: a systematic review by Josiane Cristiane Cruz, Rafaela Liberali, Ticiane Marcondes Fonseca da Cruz, Maria Ines Artaxo Netto

“…Results: The studies analyzed indicate that Pilates can be effective both for the treatment of conditions such as scoliosis, back pain, ankylosing spondylitis and breast cancer, and for preventing injuries in adults, elderly people and athletes. …”
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Recent advances in primary cilia in bone metabolism by Fenfen Lian, Hui Li, Yuwei Ma, Rui Zhou, Wei Wu

“…Abnormalities in the cilia or ciliary transport system often cause a range of clinical conditions collectively known as ciliopathies, which include polydactyly, short ribs, scoliosis, thoracic stenosis and many abnormalities in the bones and cartilage. …”
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Single-center experience of congenital solitary kidney cases by ZHANG Menghui, ZHAO Yi, JI Zhigang, LIU Guanghua, ZHOU Jingmin, LIU Haiyuan

“…Results A total of 233 patients with congenital solitary kidney (58 males and 175 females) were included in this study.The most common deformity was genital tract deformity followed by congenital scoliosis.15% of CSK patients had other renal disease.Urological surgery was performed in 5 patients,and no postoperative complications occurred during follow-up. …”
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Characteristics of brittle cornea syndrome by multimodal imaging modalities: a case report by Huixian Wang, Xu Zhang, Xiaowei Gao, Wenjing Li

“…Case presentation A 36-year-old Chinese female patient presented with significant bluish discoloration of the sclera in both eyes, extreme corneal thinning with increased corneal curvature, increased central corneal densitometry, and nystagmus. She also had scoliosis, severe osteoporosis, and thyroid disease. …”
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Two Cases of Myofibrillar Myopathies: Genetic and Quality of Life Study by Corrado Angelini, Chiara Ceolin, Alicia Aurora Rodriguez, Vincenzo Nigro

“…The first was a girl with cardiomyopathy and sensory axonal neuropathy that underwent cardiac transplantation at 15 years and suffers from rotatory scoliosis due to BAG3 mutation. The second is a male patient, with evident limb-girdle weakness since age 3. …”
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Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review by Kuntharee Traisrisilp, Yuri Yanase, Krittaya Phirom, Theera Tongsong

“…We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta with persistent left SVC, growth restriction, clubfeet and scoliosis. We also performed an analytical literature review of prenatal sonographic findings of the disease. …”
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Homocystinuria: Literature Review and Clinical Case Description by Natalia V. Buchinskaya, Eugenia A. Isupova, Mikhail M. Kostik

“…The main clinical manifestations of homocystinuria are: myopia, ectopia lentis, psychomotor retardation, learning difficulties, mental retardation, mental illnesses, behaviour problems, paroxysms, extrapyramidal symptoms, skeletal anomalies (body height), long limbs — dolichostenomelia and arachnodactylia (Marfan Phenotype), pectus carinatum, valgus lower limbs, scoliosis, osteoporosis, thromboembolic disorders. …”
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Ataxia de friedreich e diabetes mellitus. Estudo de uma Família. by Miguel Melo, Ana Fagulha, Luisa Barros, Joana Guimarães, Francisco Carrilho, Manuela Carvalheiro

“…The disorder is usually manifest in childhood and is characterised by ataxia, dysarthria, scoliosis and feet deformity. About two thirds of patients have hypertrophic cardiomyopathy, 10% have diabetes and 20% have another glucose homeostasis disorder. …”
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A comparison of traditional protractor versus Oxford Cobbometer radiographic measurement: intraobserver measurement variability for Cobb angles. by Rosenfeldt, M, Harding, I, Hauptfleisch, J, Fairbank, J

“…METHOD: Fifty-three scoliosis curves were measured by 3 examiners. Two measurement sets were performed using the traditional protractor method and two measurement sets performed using the Oxford Cobbometer. …”