Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4639
Abstract: Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in severity from lethal to mild phenotypes. This study aimed to underpin the genetic cause of skeletal… read more here.
Keywords: skeletal dysplasia; family; kif24 variants; dysplasia ... See more keywords
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4799
Abstract: Lethal short‐limb skeletal dysplasia Al‐Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al‐Gazali type, is an ultra‐rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al‐Gazali skeletal dysplasia has up… read more here.
Keywords: skeletal dysplasia; dysplasia; related disorders; gazali skeletal ... See more keywords
The Application of Crown‐Chin Length to Crown‐Rump Length Ratio in Predicting Fetal Skeletal Dysplasia at First Trimester
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Ultrasound in Medicine"
DOI: 10.1002/jum.15936
Abstract: To examine the feasibility of using crown‐chin length (CCL) to crown‐rump length (CRL) ratio in screening for skeletal dysplasia in the first trimester. read more here.
Keywords: skeletal dysplasia; rump length; chin length; crown chin ... See more keywords
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
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DOI: 10.1002/pd.5653
Abstract: The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar. read more here.
Keywords: exome sequencing; diagnosis; prenatal diagnosis; trio exome ... See more keywords
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2019.03.004
Abstract: Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono-allelic mutations of CSF1R are known to cause hereditary diffuse leukoencephalopathy with spheroids… read more here.
Keywords: csf1r mutations; mutations cause; allelic csf1r; skeletal dysplasia ... See more keywords
Activity Participation in the Pediatric Skeletal Dysplasia Population
Sign Up to like & getrecommendations! Published in 2021 at "Archives of Physical Medicine and Rehabilitation"
DOI: 10.1016/j.apmr.2021.07.436
Abstract: Research Objectives To investigate activities children with skeletal dysplasia participate.To identify activities with the greatest and lowest participation rates among children with skeletal dysplasia .To investigate participation patterns among children with skeletal dysplasia. Design Children… read more here.
Keywords: participation; children skeletal; activity; skeletal dysplasia ... See more keywords
Growing up different in Neolithic China: A contextualised case study and differential diagnosis of a young adult with skeletal dysplasia.
Sign Up to like & getrecommendations! Published in 2019 at "International journal of paleopathology"
DOI: 10.1016/j.ijpp.2019.11.001
Abstract: This paper presents a case study of a young adult from the late Neolithic Yangshao cultural period site (∼3300-2900 years BC) of Guanjia () located in Henan Province on the Central Plains of China, who… read more here.
Keywords: young adult; differential diagnosis; dysplasia; skeletal dysplasia ... See more keywords
Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β‐catenin
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DOI: 10.1111/cge.13165
Abstract: Filamin B (FLNB) functions as a switch that can affect chrondrocyte development and endochondral bone formation through a series of signaling molecules and transcription factors that also affect Sertoli cell development. Here, we report a… read more here.
Keywords: flnb; mutations flnb; gonadal dysgenesis; biallelic mutations ... See more keywords
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia
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DOI: 10.1186/s13023-021-01678-8
Abstract: Background Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidence-based clinical decision making. Methods Using… read more here.
Keywords: practice guidelines; best practice; skeletal dysplasia; craniofacial aspects ... See more keywords
Fetal autopsy for the diagnosis of skeletal dysplasia and comparison with prenatal ultrasound findings over a 16-year period
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Perinatal Medicine"
DOI: 10.1515/jpm-2022-0201
Abstract: Abstract Objectives To evaluate the relationship between prenatal ultrasonography (USG) and fetal autopsy findings. Methods Among 453 pregnancy terminations performed because of fetal anomalies on prenatal USG, 54 with skeletal dysplasia on fetal autopsy were… read more here.
Keywords: dysplasia; skeletal dysplasia; fetal autopsy; autopsy diagnosis ... See more keywords
CORONAL PLANE GROWTH MODULATION FOR GENU VALGUM IN SKELETAL DYSPLASIA
Sign Up to like & getrecommendations! Published in 2022 at "Acta Ortopedica Brasileira"
DOI: 10.1590/1413-785220223006e249113
Abstract: ABSTRACT Objective: To investigate the efficiency and rates of correction by hemiepiphysiodesis using 8-plate to manage genu valgum deformity in children with skeletal dysplasia. Methods: Eleven children with skeletal dysplasia (three female, eight male; mean… read more here.
Keywords: skeletal dysplasia; genu valgum; hemiepiphysiodesis using;