Results 51 to 60 of about 329,564 (231)

Hip Joint Osteochondroma: Systematic Review of the Literature and Report of Three Further Cases

Advances in Orthopedics, 2014
The aim of this study is to systematically review the literature with regards to surgical treatment of patients with hip joint osteochondromas, and to report our surgical management of three paediatric patients who had femoral neck or acetabular ...
Asim M. Makhdom, Fan Jiang, Reggie C. Hamdy, Thierry E. Benaroch, Martin Lavigne, Neil Saran   +5 more
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Treatment of developmental dysplasia of the hip in infants aged between 12 and 18 months with open reduction surgery [PDF]

The Egyptian Orthopaedic Journal, 2014
BackgroundDevelopmental dysplasia is a disorder that may affect the development and stability of the hip during the critical growth period. The term developmental dysplasia of the hip has replaced congenital dislocation of the hip because it more ...
Fathy Salama, Mohamed Abdallah, Samir Elshora, Osman Ellah   +3 more
doaj   +1 more source

Acetabuloplasty at the anatomic centre for treating Crowe class III and IV developmental hip dysplasia: a case series

, 2016
Introduction: Total hip replacement in patients with developmental dysplasia of the hip (DDH) is a difficult technical procedure for surgeons to perform because of the potential for these patients to have severe anomalies in their bones and soft ...
Sen, Cengiz, Gunes, Taner, Saygi, Baransel, Bilsel, Kerem, Elmadag, Mehmet   +4 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Relationship of acetabular dysplasia in females with osteoarthritis of the hip to the distance between both anterior superior iliac spines

, 2014
Background: Acetabular dysplasia (AD) is the main cause of hip osteoarthritis in Japan. A simple method to evaluate acetabular dysplasia would be helpful for early treatment or prevention of hip osteoarthritis.
Itoman, Moritoshi, Yamada, Harumoto, Takatori, Yoshio, Ito, Hiroshi, Owan, Ichiro, Ohashi, Hirotsugu, Yasunaga, Yuji, Mori, Satoshi, Jingushi, Seiya, Hirota, Yoshio, Ohfuji, Satoko, Sofue, Muroto, Yamaguchi, Kazumasa, Hamada, Yoshiki, Okano, Kunihiko, Shindo, Hiroyuki   +15 more
core   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Radiographic markers of hip dysplasia in young adults: predictive effect of factors in early life

BMC Musculoskeletal Disorders, 2023
Abstrac Background and objectives Acetabular dysplasia in young adults occurs, despite screening for developmental hip dysplasia (DDH) in the neonatal period.
Lene B. Laborie, Stein Atle Lie, Karen Rosendahl   +2 more
doaj   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Globally inconsistent: Countries with top health indices erratic developmental hip dysplasia screening protocols

Journal of Children's Orthopaedics
Purpose: Developmental hip dysplasia is a prevalent pediatric musculoskeletal condition that lacks international standardized screening. We sought to characterize developmental hip dysplasia screening practices in countries with the top global health ...
Natalie L Zusman, Pablo G Castañeda, Rachel Y Goldstein   +2 more
doaj   +1 more source