Results 41 to 50 of about 1,602 (170)

Surgical treatment of hand deformities in multiple enchondromatosis: a case report

Acta Orthopaedica et Traumatologica Turcica, 2021
Multiple enchondromatosis (Ollier’s disease) is a rare disease characterized by widespread enchondromas. In general, the short tubular bones of the hand are involved, with progressive lesions resulting in cosmetic problems and functional deformities ...
Bulent Erol, Cihangir Tetik, Evrim Sirin, Baris Kocaoglu, Murat Bezer   +4 more
doaj  

Genetic-Clinical study of skeletal dysplasias, with a focus on osteochondrodysplasias with the involvement of the axial skeleton, associated with epiphyseal and/or metaphyseal findings

, 2018
INTRODUÇÃO: As osteocondrodisplasias constituem um grupo heterogêneo de doenças que comprometem a formação, crescimento e desenvolvimento do sistema esquelético. O diagnóstico definitivo, principalmente nas formas com acometimento de coluna, epífise e/ou
Baratela, Wagner Antonio da Rosa
core   +1 more source

Diastrophic dysplasia: prenatal diagnosis and review of the literature

São Paulo Medical Journal
CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Jonathan Celli Honório, Rafael Frederico Bruns, Luciana Fernandes Gründtner, Salmo Raskin, Lilian Pereira Ferrari, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza   +6 more
doaj   +1 more source

Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 4, Page 604-614, April 2025.
Our study suggests that exome sequencing adds approximately 60% of the diagnostic yield in fetuses with skeletal abnormalities reported in previous literature. The dysplasia phenotypes had a higher incremental yield, whereas the dysostoses group according to this study had a relatively lower yield, especially in the isolated dysostoses group.
Yan Wang, Yuan Lv, Jia Yao, Hao Ding, Gang Li, Jianmin Li, Lizhu Chen   +6 more
wiley   +1 more source

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.
ABSTRACT Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin‐2 (PKD2) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains
Erica L. Macke, Anthony R. Miller, Caitlyn M. Colwell, Maria Hernandez Gonzalez, Jesse Hunter, Lakshmi Prakruthi Rao Venkata, Lauren Walker, Gregory Wheeler, Richard K. Wilson, Elaine R. Mardis, Katherine E. Miller, Mariam T. Mathew, Bimal P. Chaudhari, Yassmine Akkari   +13 more
wiley   +1 more source

Report of a novel mutation in the SLC26A2 gene foud in a colomian adult patient with diastrophic dysplasia

Revista de la Facultad de Medicina, 2013
Background. Diastrophic dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter. This sindrome is a micromelic dysplasia with multiple bone deformities of the hands,
Tatiana Pineda, Antonio Rossi, Luisa Bonafe, Andrea Superti-Furga, Harvy M. Velasco   +4 more
doaj  

The Role of Prenatal Ultrasound and Added Value of Post‐Mortem Radiographic Imaging With X‐Ray and CT in Suspected Fetal Skeletal Dysplasia

Prenatal Diagnosis, Volume 45, Issue 1, Page 77-88, January 2025.
ABSTRACT Objective This study aims to assess the diagnostic value of post‐mortem radiographic imaging compared with prenatal ultrasound in suspected fetal skeletal dysplasias in a large Finnish cohort. Method Prenatal ultrasound findings and their association with post‐mortem radiographic imaging were evaluated in a cohort of 36 fetuses with prenatally
Katri Rajala, Sanna Toiviainen‐Salo, Outi Mäkitie, Vedran Stefanovic, Laura Tanner   +4 more
wiley   +1 more source

Displasia espondilometafisaria tipo Kozlowski

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
La displasia espondilometafisaria Kozlowski es un tipo de displasia ósea, que está comprendida dentro de un grupo de desórdenes que afecta fundamentalmente la metáfisis de huesos tubulares, con preferencia por la columna vertebral. Está caracterizada por
Elayne Esther Santana Hernández, Víctor Jesús Tamayo Chang   +1 more
doaj  

An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination

Congenital Anomalies, Volume 65, Issue 1, January/December 2025.
Abstract The current case report presents the postmortem examination findings of a 17‐week‐old female fetus displaying thanatophoric dysplasia type 1 (TD‐1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X‐ray examination revealed significant abnormalities, including skeletal malformations with prominent TD‐1 femur ...
Ioanna Abba Deka, Paschalis Theotokis, Maria Eleni Manthou, Angeliki Mathioudi, Evangelia Athanasiou, Soultana Meditskou   +5 more
wiley   +1 more source

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A12 Locus [PDF]

, 1995
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Goldring, Mary B, Olsen, BR, Vikkula, Miikka, Zhidkova, Natalia I, Mayne, R, de Waal Malefijt, Maarten C, Tiller, G.E., Ropers, H.H., Cheah, Kathryn S.E, Madman, Edwin C.M, Cheah, K.S.E., Brunner, Han G, Van den Hoogen, FHJ, Vikkula, M., Zhidkova, NI, Zhidkova, N.I., Lui, VCH, Mayne, R., Hoogen, F.H.J. van den, Waal Malefijt, M.C. de, Mariman, E.C.M., Beersum, S.E.C. van, Brunner, H.G., Mariman, ECM, Ropers, H.-H., De Waal Malefijt, MC, Olsen, Bjorn R, Tiller, GE, Tiller, George E, Goldring, M.B., Cheah, KSE, Mayne, Richard, Warman, M.L., Brunner, HG, van Beersum, Sylvia E.C, Ropers, Hans-Hilger, Lui, V.C.H., Goldring, MB, Van Beersum, SEC, Vikkula, M, Ropers, HH, Olsen, B.R., Warman, ML, Warman, Matthew L, van den Hoogen, Frank H.J, Lui, Vincent C.H   +45 more
core   +2 more sources