Results 31 to 40 of about 9,046 (221)

Cleidocranial dysplasia: Spectrum of clinical and radiological findings in seven cases

Journal of Oral and Maxillofacial Radiology, 2015
Introduction: Cleidocranial dysplasia (CCD) is an autosomal dominant disorder primarily affecting bones, which undergo membranous ossification. It commonly presents with significant dental and facial problems, including the hypoplastic maxilla, retained ...
Shikha Gupta, Sunita Gupta, Khushboo Singh, Prajat Arora, Sinny Goel   +4 more
doaj   +1 more source

Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report

Clinical Case Reports, 2022
We report a preterm male neonate presenting with a short trunk, short neck, low hairline, deformed ears, preauricular skin tag, penoscrotal transposition (PT), palmar crease, short and broad fingers and toes (brachydactyly), hypoplastic and deep‐set ...
Surasak Puvabanditsin, Michelle Gorbonosov, Kristin Blackledge, Jeffrey Manzano, Matthew Federici, Rajeev Mehta   +5 more
doaj   +1 more source

Mucopolysaccharidosis VI in cats - clarification regarding genetic testing [PDF]

, 2016
Debate. Published online: 02 July 2016.The release of new DNA-based diagnostic tools has increased tremendously in companion animals. Over 70 different DNA variants are now known for the cat, including DNA variants in disease-associated genes and genes ...
Beccaglia, M., Genova, F., Grahn, R., Hopwood, J., Longeri, M., Lyons, L.   +5 more
core   +5 more sources

Spondylocostal dysostosis with type II split cord malformation: A report of a rare case and brief review of the literature

Radiology Case Reports
Spondylocostal dysostosis (Jarcho Levin syndrome) is a rare costovertebral malformation syndrome that will result in restrictive pulmonary physiology. It manifests its major components at birth.
Michael Teklehaimanot Abera, MD, Amanuel Aboye Ketema, MD, Abubeker Fedlu Abdela, MD, Tesfaye Gizaw Tefera, MD   +3 more
doaj   +1 more source

Jarcho-Levin Syndrome: Two Consecutive Cases in the Same Family

Journal of Family and Reproductive Health, 2020
Jarcho-Levin Syndrome was first defined in 1938 by Saul Jarcho and Paul Levin. In the medical literature Jarcho-Levin Syndrome has a variety of synonyms such as Spondylocostal dysplasia/Dysostosis, Spondylocostal Dysostosis (SCD), Spondylothoracic ...
patsouras grigorios, George Maroudias, Saloum Ioannis, Patsouras Konstantinos   +3 more
doaj   +1 more source

Mandibulofacial dysostosis

South African Journal of Radiology, 2012
Two cases of mandibulofacial dystostosis are presented in order to describe the features associated with the condition. Computed tomography (CT) is frequently performed on these patients to aid in surgical planning.
Hein Els, Shaun Scheepers
doaj   +1 more source

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. [PDF]

, 2016
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs).
Dickson, Patricia I, Lund, Troy C, Miller, Weston P, Orchard, Paul J, Pasquali, Marzia, Polgreen, Lynda E, Raymond, Gerald V   +6 more
core   +1 more source

the rare bone disorders use case [PDF]

, 2015
Background Lately, ontologies have become a fundamental building block in the process of formalising and storing complex biomedical information. The community-driven ontology curation process, however, ignores the possibility of multiple communities ...
Groza, Tudor, Robinson, Peter N., Tudorache, Tania, Zankl, Andreas   +3 more
core   +1 more source

Treacher Collin Syndrome

Indian Journal of Plastic Surgery, 1984
A case of treacher-collin syndrome (Mandibulo facial dysostosis) is reported.
Rajendra N. Sharma, Tara Chandra
doaj   +1 more source

Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins Syndrome. [PDF]

, 1997
Ptx1 belongs to an expanding family of bicoid-related vertebrate homeobox genes. These genes, like their Drosophila homolog, seem to play a role in the development of anterior structures and, in particular, the brain and facies. We report the chromosomal
Barbara Beatty, Christian Lanctôt, Debra Gilbert, Jacques Drouin, Jacques J. Tremblay, Michael J. Crawford, Montréal Québec Hw, Nancy Jenkins, Neal Copel   +8 more
core   +4 more sources