Results 11 to 20 of about 39,956 (278)

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain [PDF]

BMC Bioinformatics, 2012
Background Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological ...
Groza Tudor, Hunter Jane, Zankl Andreas
doaj   +2 more sources

Skeletal Dysplasia

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.
core   +4 more sources

Thanatophoric Skeletal Dysplasia: A Case Report

Journal of Nepal Medical Association, 2020
Thanatophoric skeletal dysplasia is the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat ...
Firoz Anjum, Sunil Kumar Daha, Ganesh Sah   +2 more
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A novel FLNA variant in a fetus with skeletal dysplasia

Human Genome Variation, 2022
Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA.
Kyoko Oshina, Yoshimasa Kamei, Asuka Hori, Fuyuki Hasegawa, Kosuke Taniguchi, Ohsuke Migita, Atsuo Itakura, Kenichiro Hata   +7 more
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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects [PDF]

Nature Communications, 2018
The majority of skeletal dysplasia are caused by pathogenic variants in genes required for glycosaminoglycan (GAG) metabolism. Here, Dubail et al. identify genetic variants in the solute carrier family protein SLC10A7 in families with skeletal dysplasia ...
Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mihci, Christopher T. Gordon, Elisabeth Steichen-Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte-Dijkstra, Albertien M. van Eerde, Koen L. van Gassen, Corstiaan C. Breugem, Alexander Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Munnich, Dulce Papy-Garcia, Muriel De La Dure-Molla, Valérie Cormier-Daire   +23 more
doaj   +2 more sources

Oxandrolone therapy in skeletal dysplasia.

The Turkish journal of pediatrics, 1993
Three patients with short stature and different forms of skeletal dysplasia were treated with oxandrolone, 1.25 mg/day. All patients had a normal growth hormone response (10 ng/ml) to the insulin-induced hypoglycemia test (ITT). After one year of follow-up, it was noted that the pretreatment growth rate which was 2.5 cm/yr in the patient with ...
KOVANLIKAYA, I, BUYUKGEBIZ, A
openaire   +4 more sources

Skeletal Dysplasias [PDF]

Clinics in Perinatology, 2015
The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care, it is important to determine a precise diagnosis to aid in management, familial recurrence, and ...
Kuldeep Singh, Abhay Elhence
  +7 more sources

A primer on skeletal dysplasias [PDF]

Japanese Journal of Radiology, 2021
AbstractSkeletal dysplasia encompasses a heterogeneous group of over 400 genetic disorders. They are individually rare, but collectively rather common with an approximate incidence of 1/5000. Thus, radiologists occasionally encounter skeletal dysplasias in their daily practices, and the topic is commonly brought up in radiology board examinations ...
Atsuhiko Handa, Gen Nishimura, Malia Xin Zhan, D. Lee Bennett, Georges Y. El-Khoury   +4 more
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High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies [PDF]

, 2021
[EN]Objective: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short
Modamio-Hoybjor, Silvia, Aza‐Carmona, Miriam, Ruiz‐Ocaña, Pablo, Sentchordi‐Montané, Lucía, Bezanilla-López, Carolina, Mulero‐Collantes, Inés, Carcavilla‐Urquí, Atilano, Nevado, Julián, Aza-Carmona, Miriam, Mulero-Collantes, Ines, Barreda-Bonis, Ana C, Barreda-Bonis, Ana C., Solís, Mario, de la Torre, Carolina, Heath, Karen E, de Buitrago Amigo, Jesus Gonzalez, Travessa, André M, Benito-Sanz, Sara, González-Casado, Isabel, Prieto, Pablo, Bermúdez de la Vega, José Antonio, Campos-Barros, Ángel, Heath, Karen E., Bahíllo-Curieses, Pilar, del Pozo, Angela, Ruiz-Ocana, Pablo, Travessa, Andre M., Goetz, Carlos, Carcavilla, Atilano, Ros-Pérez, Purificación, Díaz-González, Francisca, Modamio-Høybjør, Silvia, Cruz-Rojo, Jaime, Vallespín, Elena, Ramírez-Fernández, Joaquín, Benito‐Sanz, Sara, Santos-Simarro, Fernando, González de Buitrago Amigo, Jesús, Sentchordi-Montane, Lucia, Prieto Matos, Pablo, Parrón-Pajares, Manuel   +40 more
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The skeletal dysplasias [PDF]

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
openaire   +2 more sources