Cargando…

Congenital Scoliosis in Smith–Magenis Syndrome: A Case Report and Review of the Literature

The Smith–Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations. Little is reported about spinal deform...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Zheng, Shen, Jianxiong, Liang, Jinqian, Sheng, Lin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2015
Materias:	7100
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603031/ https://www.ncbi.nlm.nih.gov/pubmed/25929900 http://dx.doi.org/10.1097/MD.0000000000000705

Ejemplares similares

Scoliosis in a Patient With Gilbert Syndrome: A Case Report and Review of the Literature
por: Li, Zheng, et al.
Publicado: (2015)

Scoliosis in Mitochondrial Myopathy: Case Report and Review of the Literature
por: Li, Zheng, et al.
Publicado: (2015)

Thoracolumbar Scoliosis in a Patient With Proteus Syndrome: A Case Report and Literature Review
por: Li, Zheng, et al.
Publicado: (2015)

Scoliosis in Herlyn–Werner–Wunderlich Syndrome: A Case Report and Literature Review
por: Li, Zheng, et al.
Publicado: (2014)

Successful surgical treatment of scoliosis secondary to Guillain–Barré syndrome: Case report
por: Li, Zheng, et al.
Publicado: (2016)

Surgical treatment of scoliosis in Smith-Magenis syndrome: a case report
por: Tsirikos, Athanasios I, et al.
Publicado: (2010)

Smith-magenis syndrome: A rare case report
por: Sinha, Rupam, et al.
Publicado: (2022)

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature
por: Truong, Hoa T, et al.
Publicado: (2010)

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review
por: Cipolla, Clelia, et al.
Publicado: (2023)

Congential scoliosis in Wilson’s disease: case report and review of the literature
por: Li, Zheng, et al.
Publicado: (2014)

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome
por: Poisson, Alice, et al.
Publicado: (2015)

Acoustic Analysis of Phonation in Children With Smith–Magenis Syndrome
por: Hidalgo-De la Guía, Irene, et al.
Publicado: (2021)

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders
por: Rinaldi, Berardo, et al.
Publicado: (2022)

Hidradenitis Suppurativa in a Patient with Smith-Magenis Syndrome: A Case Report
por: McKenzie, Shanice A, et al.
Publicado: (2019)

RAI1 gene mutations: mechanisms of Smith–Magenis syndrome
por: Falco, Mariateresa, et al.
Publicado: (2017)

Cerebral Venous Thrombosis in a Patient With Smith-Magenis Syndrome
por: Zahoor, Hovra, et al.
Publicado: (2023)

Thoracolumbar Scoliosis Due to Cryptococcal Osteomyelitis: A Case Report and Review of the Literature
por: Li, Zheng, et al.
Publicado: (2016)

A case report of congenital scoliosis associated with situs inversus totalis
por: Zhu, Ce, et al.
Publicado: (2017)

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome
por: Nag, Heidi Elisabeth, et al.
Publicado: (2018)

Proteomic Comparison of Paraspinal Muscle Imbalance Between Idiopathic Scoliosis and Congenital Scoliosis
por: Wang, Zhen, et al.
Publicado: (2023)

SUN-691 Type 2 Diabetes Management in the Context of Smith-Magenis Syndrome: Case Report
por: Mulvaney, Kylie Tamm, et al.
Publicado: (2020)

Scoliosis secondary to lumbar osteoid osteoma: A case report of delayed diagnosis and literature review
por: Zhang, Haiping, et al.
Publicado: (2016)

Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
por: Boot, Erik, et al.
Publicado: (2021)

Parental experiences with behavioural problems in Smith–Magenis syndrome: The need for syndrome-specific competence
por: Nag, Heidi Elisabeth, et al.
Publicado: (2019)

Smith–Petersen osteotomy combined with anterior debridement and allografting for active thoracic and lumbar spinal tuberculosis with kyphotic deformity in young children: A prospective study and literature review
por: Abulizi, Yakefu, et al.
Publicado: (2017)

First Case Report of Smith–Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview
por: Nijim, Yousif, et al.
Publicado: (2016)

Adrenocorticotropic Hormone Therapy Improved Spasms and Sleep Disturbance in Smith–Magenis Syndrome: A Case Report
por: Momosaki, Ken, et al.
Publicado: (2020)

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome
por: Carmona-Mora, Paulina, et al.
Publicado: (2012)

Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study
por: Agar, Georgie, et al.
Publicado: (2022)

First Case Report of Smith–Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview: Erratum
Publicado: (2017)

Entrapment of the extensor pollicis longus tendon in a pediatric Smith fracture: A case report
por: Lee, Yoon Min, et al.
Publicado: (2019)

Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder
por: Poisson, Alice, et al.
Publicado: (2019)

Management of Attention Deficits and Behavioral Dyscontrol With an Evening-Dosed Methylphenidate Formulation in Smith-Magenis Syndrome
por: Narlesky, Matthew R, et al.
Publicado: (2022)

Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith–Magenis syndrome
por: Chang, Ya-Ting, et al.
Publicado: (2022)

Recurrence of a congenital diaphragmatic hernia 57 years postoperatively: A case report and review of the literature
por: Horiguchi, Kohei, et al.
Publicado: (2022)

Is it safe and effective to correct congenital scoliosis associated with multiple intraspinal anomalies without preliminary neurosurgical intervention?
por: Yang, Ningning, et al.
Publicado: (2021)

Age-related changes in behavioural and emotional problems in Smith–Magenis syndrome measured with the Developmental Behavior Checklist
por: Nag, Heidi Elisabeth, et al.
Publicado: (2020)

Progressive scoliosis associated with microphthalmia with limb anomalies: A case report
por: Yoshikawa, Yoshiro, et al.
Publicado: (2023)

Peutz–Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature
por: Duan, Shou-Xing, et al.
Publicado: (2017)

Effect of patient position on the lordosis and scoliosis of patients with degenerative lumbar scoliosis
por: Fei, Han, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_a528msq92jc7de59oek3rsdlpi