Results 21 to 30 of about 39,956 (278)
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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Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments
, 2023 Skeletal dysplasias are a group of rare genetic disorders that affect growth and development of the skeleton, leading to physical deformities and other medical problems.
Packer, Nicolle H +5 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
doaj +1 more source
Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia. [PDF]
Clin GenetMulibrey nanism (MUL) is a monogenic growth disorder caused by mutations in TRIM37, with pre-and postnatal growth failure, typical craniofacial features, perimyocardial heart disease, infertility and predisposition to tumors.
Karlberg S +3 more
europepmc +2 more sources
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
doaj +1 more source
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
openaire +2 more sources
Diagnostic use of skeletal survey in suspected skeletal dysplasia [PDF]
, 2009 <p><b>Objective:</b> To review the practice of skeletal surveys in cases of suspected skeletal dysplasia.</p> <p><b>Methods:</b> Retrospective review of records of patients with suspected skeletal dysplasia ...
Higgins, P. +7 more
core +1 more source
Dermatoglyphs in skeletal dysplasias [PDF]
Postgraduate Medical Journal, 1977 Summary Finger and palm print patterns (dermatoglyphs) are formed in very early pregnancy, at about the same time the limbs are developing, and their formation probably depends upon the surface contours of the palms and soles during morphogenesis.
David, Timothy, David, T. J.
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Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. [PDF]
, 2017 POP1 is a large protein common to the RNase-MRP and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes.
Duncan, E.L. +29 more
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