Results 11 to 20 of about 62,388 (273)
A neonate with metatropic dysplasia: A case report
Sri Lanka Journal of Medicine, 2023 Metatropic dysplasia is a rare form of skeletal dysplasia in which characteristic clinical and imaging features are found at birth. The short limbs with relatively long trunk seen in the neonatal period change to short trunk in childhood due to ...
M. C. Wettasinghe +3 more
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Human Genomics, 2021 Introduction Skeletal dysplasia is a common, clinically and genetically heterogeneous disorder in the human population. An increasing number of different genes are being identified causing this disorder. We used whole exome sequencing (WES) for detection
Mahsa Sadat Asl Mohajeri +8 more
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Orthopaedic Journal of Sports Medicine, 2021 Background: Reports of anterior cruciate ligament (ACL) injury in patients with skeletal immaturity have been increasing. Variations in knee joint anatomy have been linked to ACL injury risk factors.
Yoon Hae Kwak MD, PhD +3 more
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HEMIMELIC SKELETAL DYSPLASIA [PDF]
The Journal of Bone and Joint Surgery. British volume, 1964 1. A case is reported of a Jamaican boy of fifteen months with typical and florid manifestations of dysplasia epiphysialis hemimelica associated with a number of atypical features not previously recorded. 2. The progress of the disorder over a limited period of two years is described and the development of the atypical features is discussed.
H M, SAXTON, J A, WILKINSON
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Genetics in Medicine, 2010 The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria.
Deborah, Krakow, David L, Rimoin
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Is Plasma C-Type Natriuretic Peptide Level Suitable for Diagnosing and Typing Skeletal Dysplasia?
Trends in Pediatrics, 2022 Objective: Skeletal dysplasia is a heterogeneous group of diseases that lead to abnormal enchondral ossification and typing of the disease is quite complex. C-type natriuretic peptide (CNP), one of the members of the natriuretic peptide family, has been
Sirmen Kızılcan Çetin +6 more
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Biomechanics of foetal movement. [PDF]
, 2015 © 2015, AO Research Institute. All rights reserved.Foetal movements commence at seven weeks of gestation, with the foetal movement repertoire including twitches, whole body movements, stretches, isolated limb movements, breathing movements, head and neck
Nowlan, NC
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Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management [PDF]
, 2007 Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM +3 more
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Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
Frontiers in Genetics, 2021 Skeletal dysplasia is a complex group of bone and cartilage disorders with strong clinical and genetic heterogeneity. Several types have prenatal phenotypes, and it is difficult to make a molecular diagnosis rapidly.
Hui Tang +10 more
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Donald School Journal of Ultrasound in Obstetrics and Gynecology, 2011 ABSTRACT The word dysplasia originates from the ancient Greek words dys (anomalous) and plasia (formation). Skeletal dysplasia (SD) is a heterogeneous group of congenital anomalies characterized by abnormalities in the development of bone and cartilage tissues.
Antsaklis, A., Anastasakis, E.
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