Results 91 to 100 of about 9,046 (221)
PLoS ONE, 2015 Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment,
Cali E Willet +6 more
doaj +1 more source
A Twist in the Diagnosis: Chronic Arthropathy Without Inflammation
Arthritis Care &Research, Volume 77, Issue 12, Page 1395-1402, December 2025.
María Á. Puche‐Larrubia +3 more
wiley +1 more source
Investigating subsumption in DL-based terminologies: A case study in SNOMED CT [PDF]
, 2004 Formalisms such as description logics (DL) are sometimes expected to help terminologies ensure compliance with sound ontological principles. The objective of this paper is to study the degree to which one DL-based biomedical terminology (SNOMED
Bodenreider, Olivier +3 more
core +1 more source
Spondylothoracic dysostosis, Jarcho Levin syndrome: case report [PDF]
, 2016 Dysostosis spondylothoracic, or Jarcho Levin syndrome, is characterized by a short neck and thorax, a protruding abdomen, abnormal vertebral segmentation and fusion posterior costal resulting in thoracic restriction or respiratory failure and scoliosis ...
Burciaga Flores, Carlos Horacio +5 more
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Indian Pediatrics Case ReportsBackground: Jarcho–Levin syndrome (JLS) is a rare congenital dysostosis with vertebral and rib anomalies. Varying types of neural tube defects (NTDs) have been reported in JLS. We bring forth two different NTD in two newborns with JLS.
Priyaba Chudasama +3 more
doaj +1 more source
Virchow-Robin spaces : an anatomic variant or a pathologic sign? [PDF]
, 2009 Virchow-Robin spaces surround blood vessels. Their walls are formed by prolongations of the pia mater and they have no communication with the subarachnoid space. VRS are often seen as well-delineated foci of cerebrospinal fluid signal on MR images.
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A Case Report: Nager Acrofacial Dysostosis [PDF]
Iranian Journal of Otorhinolaryngology, 2012 Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown.
Shahin Abdollahi Fakhim +2 more
doaj +2 more sources
Abnormal mandibular growth and the condylar cartilage [PDF]
, 2017 Deviations in the growth of the mandibular condyle can affect both the functional occlusion and the aesthetic appearance of the face. The reasons for these growth deviations are numerous and often entail complex sequences of malfunction at the cellular ...
Luder, Hans. U. +3 more
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Cementum analysis in cleidocranial dysostosis
Indian Journal of Dental Research, 2008 Objective: Cleidocranial dysostosis (CCD) is a skeletal disorder associated with dental anomalies such as failure or delayed eruption of permanent teeth and multiple impacted supernumerary or permanent teeth.
Manjunath K +4 more
doaj
Franceschetti syndrome (mandibulo-facial dysostosis) at a newborn [PDF]
Саратовский научно-медицинский журнал, 2015 The aim of the article is to present the clinical experience of conducting the patient with a congenital disease (mandibulo-facial dysostosis) resulting from defeat of the structures proceeding from the first branchial arch.
Nechaev V.N. +3 more
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