Results 21 to 30 of about 848 (140)

PRIMER CASO DE DISPLASIA TANATOFÓRICA TIPO 1 EN LOS ANDES PERUANOS CON VARIANTE PATOGÉNICA EN EL GEN FGFR3 [PDF]

Revista de la Facultad de Medicina Humana, 2023
La displasia tanatofórica tipo 1 es una forma de displasia esquelética letal, se caracteriza por desproporciones del esqueleto axial-apendicular además de talla baja, macrocefalia, prominencia frontal, tórax estrecho, arqueamiento femoral y micromelia ...
Carlos Hugo Torres Salinas, Yesenia Ledesma Porras   +1 more
doaj   +2 more sources

Pathways to enhancing prenatal diagnosis of skeletal dysplasias. [PDF]

Pregnancy (Hoboken)
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Wang MJ, Jacobsen C, Arnold J, Wapner RJ, Krakow D.   +4 more
europepmc   +2 more sources

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype. [PDF]

Clin Genet
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arduç A, Zuurbier LC, van Maarle MC, Lauffer P, Verbeke JIML, Bax CJ, van Tuyl M, Hochstenbach R, Pajkrt E.   +8 more
europepmc   +2 more sources

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology. [PDF]

Clin Genet
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Leduc F, Vanlerberghe C, Escande F, Brunelle P, Petit F, Dieux A.   +5 more
europepmc   +2 more sources

Evaluating the Toxicity and Safety of Turmeric (<i>Curcuma longa</i> L.) and Its Components: A Narrative Review. [PDF]

J Toxicol
Turmeric (Curcuma longa), a widely used botanical in traditional medicine, has gained global attention for its therapeutic potential, particularly due to its components including curcumin. While its pharmacological benefits are extensively documented, concerns regarding its safety profile and potential toxicity have emerged, especially with high‐dose ...
Jalali J, Ghasemzadeh Rahbardar M.
europepmc   +2 more sources

Exploring Upper Limb Malformation Associated With Cornelia De Lange Syndrome: A Clinical Case Report. [PDF]

Case Rep Obstet Gynecol
Introduction Upper extremity deformation may come in isolation, such as polydactyly, or be associated with a syndrome involving other body parts. Cornelia de Lange syndrome (CDLS) is a syndrome encompassing many abnormalities with some variation and a spectrum of severity. This case report presents a case of a baby with suspected CDLS.
Kurniawan AP, Abdurrazak G, Muthalib AA, Hasani RDK.   +3 more
europepmc   +2 more sources

Unilateral Forelimb Micromelia and Concurrent Aphalangia in a Kid: A Case Report [PDF]

, 2017
Congenital malformations and inherited disorders constitute a substantial proportion of the bone pathologies seen in sheep and goats. The macroscopic and radiographic features of a micromelia with aphalangia case are described here in a 2-month-old, 12 ...
P. M. Parés-Casanova
core   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes. [PDF]

Clin Genet
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Mokhtari A, Charbonneau J, Miranda V, Jizi K, Delrue MA, Egerszegi P, Thiffault I, Campeau PM.   +7 more
europepmc   +2 more sources

A case report of achondrogenesis type II (Langer-Saldino achondrogenesis)

The Egyptian Journal of Radiology and Nuclear Medicine, 2021
Background Achondrogenesis type II is a rare autosomal dominant skeletal dysplasia with a frequency of ~0.2 per 100,000 births. It is one of the lethal short-limbed dwarfisms associated with structural mutations in type II collagen and is also known as ...
Saurabh Maheshwari, Dilip Ingole, Samar Chatterjee, Uddandam Rajesh, Varun Anand   +4 more
doaj   +1 more source

Pediatric Scoliosis in Osteogenesis Imperfecta: From Genetic Mechanisms to Therapeutic Strategies. [PDF]

Orthop Surg
This review explores the genetic underpinnings and treatment strategies for spinal deformities in children with osteogenesis imperfecta. Emphasis is placed on emerging molecular insights and modern surgical techniques that improve the management of severe scoliosis and enhance patient outcomes.
Muldiiarov V, Buesing K, Wallace MJ.
europepmc   +2 more sources