Results 131 to 140 of about 1,725,891 (346)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Bone Metabolite Profile Differs between Normal and Femur Head Necrosis (FHN/BCO)-Affected Broilers: Implications for Dysregulated Metabolic Cascades in FHN Pathophysiology. [PDF]

Metabolites, 2023
Ramser A, Hawken R, Greene E, Okimoto R, Flack B, Christopher CJ, Campagna SR, Dridi S.   +7 more
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Results of nonvascular fibula grafting with osteosynthesis in neglected fracture neck of femur

Journal of Orthopedics, Traumatology and Rehabilitation, 2014
Neglected fracture neck of femur is a challenging condition to treat. Preservation of the head of femur is desirable in young patients. Various options include osteosynthesis, osteotomy combined with or without vascular or non-vascular bone grafting.
Nirmal Chandra Mohapatra, Gunjar Jain, Tapas Kumar Panigrahi   +2 more
doaj   +1 more source

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Chircop, Marcelle, Ellul, Marthese, Grech, Victor E., Grixti, Charles J.   +3 more
core  

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Morphometric Analysis of the Proximal and Distal Ends of Adult Dry Femur Bone: A Cross sectional Study in the Population of North Karnataka, India [PDF]

Journal of Clinical and Diagnostic Research
Introduction: Orthopaedic surgeons require anatomical knowledge of the proximal and distal ends of the femur when performing knee replacement or knee arthroplasty procedures.
Shilpa M Bhimalli, Agamdeep Singh Bedi, Mugdha Malik, Vinod Chandgadkar, Sheetal V Pattanshetti, Daksha Dixit   +5 more
doaj   +1 more source

The Value of the Frog Lateral View Radiograph for Detecting Collapse of Femur Head Necrosis: A Retrospective Study of 1001 Cases. [PDF]

Front Med (Lausanne), 2022
Yang F, Deng X, Xin P, Hong Z, Pang F, He W, Wei Q, Li Z.   +7 more
europepmc   +1 more source

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

Digital Photographic Measurements of the Proximal Femoral Anatomy

Siriraj Medical Journal, 2018
Objective: This study evaluated the morphology of the proximal femur in the Thai population, especially the femoral head-neck relationship and the femoral neck-shaft relationship, using digital photographs. Methods: The morphology of each proximal femur
Sarut Waranuchitkul, M.D., Pisit Lertwanich, M.D.   +1 more
doaj   +1 more source