Results 101 to 110 of about 181,651 (400)

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Rapidly increasing incidence in scoliosis surgery over 14 years in a nationwide sample

European spine journal, 2018
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

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Do different pathologies of adult spinal deformity (idiopathic lumbar scoliosis against de novo lumbar scoliosis) affect preoperative and postoperative selfimage? [PDF]

Asian Spine Journal
Study Design Retrospective single-center study. Purpose This study aimed to examine the factors associated with the self-image domain of the Scoliosis Research Society-22 revised (SRS-22r) in patients who underwent corrective surgery for adult idiopathic
hiroshi Taniwaki, Akira Matsumura, Yuki Kinoshita, Masatoshi Hoshino, Takashi Namikawa, Yusuke Hori, Hiroaki Nakamura   +6 more
doaj   +1 more source

THE TREATMENT OF SCOLIOSIS [PDF]

Journal of the American Medical Association, 1917
From the earliest times, scoliosis has been written about and described in such a way as to make it the most complex subject in orthopedics. It would seem that if the explanations and descriptions could be reduced to simpler terms, the principles of treatment would be fewer and simpler, even though the ultimate results were still difficult of ...
openaire   +3 more sources

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns‐Jenkins, Greg James, Eleanor Hay, Andrew O. M. Wilkie, Louise C. Wilson   +8 more
wiley   +1 more source

Measures of Health-Related Quality of Life Outcomes in Pediatric Neurosurgery: Literature Review [PDF]

, 2019
Background Improving value in healthcare means optimizing outcomes and minimizing costs. The emerging pay-for-performance era requires understanding of the effect of healthcare services on health-related quality of life (HRQoL).
Desai, Virendra R., Gadgil, Nisha, Lam, Sandi K., Raskin, Jeffrey S., Saad, Shahbaz   +4 more
core   +1 more source

Adolescent idiopathic scoliosis

The Lancet, 1991
#### Summary points Scoliosis is a three dimensional deformity of the spine defined as a lateral curvature of the spine in the coronal plane of more than 10°.1 It can be categorised into three major types—congenital, syndromic, and idiopathic ...
F. Altaf, Alexander Gibson, Z. Dannawi, H. Noordeen   +3 more
semanticscholar   +1 more source

Sacroiliac Joint Involvement: An Underreported Complication of NF1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NF1‐related bone dysplasia in children and young adults with neurofibromatosis type 1 (NF1) involving the sacroiliac joint has been rarely described. We report four participants who underwent whole‐body magnetic resonance imaging (WB‐MRI) as part of a longitudinal imaging and plexiform neurofibroma (PN) biomarker study (NCT05238909) at Ann ...
Jenny P. Garzon, Eva Dombi, Jonathan Samet, Maria P. Silva, Carolyn R. Raski, Michael Sawin, Carlos E. Prada   +6 more
wiley   +1 more source

Getting Ahead of the Curve: Screening and Early Detection of Scoliosis in Adolescents to Prevent Progression of Spinal Deformity [PDF]

, 2018
Scoliosis is a spinal deformity that affects approximately 7 million people in United States. The most common age of onset of idiopathic scoliosis is between 10-15 years old.
Saunders, Patrick
core   +1 more source