Results 171 to 180 of about 406,691 (285)

Deep Intramuscular Vascular Malformations in Pediatric Klippel–Trenaunay Syndrome Mimicking Maffucci Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Klippel‐Trenaunay syndrome (KTS) is a rare congenital vascular overgrowth disorder characterized by capillary and venous or lymphatic malformations with limb hypertrophy. Deep intramuscular involvement in children is uncommon and may resemble other vascular‐overgrowth syndromes.
Syeda Simrah Shah, Barka Sajid, Muzainah Tabassum, Mirha Ali, Taher Janoowala, Tehreem Farooq, Muhammad Ahsan, Mirza Mohammad Ali Baig, Mirza Daniyal Baig, Mohammed Hammad Jaber Amin   +9 more
wiley   +1 more source

Exposure to polylactic acid microplastics during puberty increases the risk of skeletal dysplasia by disrupting arachidonic acid metabolism in osteoblasts. [PDF]

Part Fibre Toxicol
Zhang Y, Cai Z, Luo X, Chen H, Zhang X, Pan C.   +5 more
europepmc   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia. [PDF]

Congenit Anom (Kyoto)
Shimura K, Tsujioka Y, Kijima T, Ichihashi Y, Kushima R, Nishimura G, Hasegawa T, Narumi S.   +7 more
europepmc   +1 more source

Alder–Reilly Anomaly Leading to Incidental Diagnosis of MPS VII in an Asymptomatic Adult

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of β‐glucuronidase due to pathogenic variants in the GUSB gene. Impaired degradation of glycosaminoglycans (GAGs) results in multiorgan dysfunction with highly variable clinical presentation, ranging from severe ...
Margaretha G. M. Roemer, Monique Chevallier, Marie van Dijk, André B. P. van Kuilenburg, Kasper W. ter Horst, Janneke C. Zant   +5 more
wiley   +1 more source

Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis. [PDF]

Ann Med
Wang L, Zhang Y, Zheng F, Dong H, Zhu X, Jia C, Zhang B.   +6 more
europepmc   +1 more source

Case Report: Constraint led strength and conditioning for Paralympic throwers with skeletal dysplasia. [PDF]

Front Sports Act Living
Judge LW, Garcia-Carrillo E.
europepmc   +1 more source

A Diagnostic Challenge: Unilateral Gingival Enlargement With Altered Tooth Eruption in a Paediatric Patient

Oral Diseases, EarlyView.
Luca Cricenti, Rossella Ninivaggi, Federico Liguori, Nicola Scotti, Allegra Comba, Patrizia Defabianis, Federica Romano   +6 more
wiley   +1 more source

Serological Evidence of Schmallenberg Virus Exposure in Ruminant Abortion Cases from Selected Regions of Iran: A Virus Neutralization Test‐Based Study

Veterinary Medicine and Science, Volume 12, Issue 6, November 2026.
Neutralizing antibodies against Schmallenberg virus (SBV) were detected by the virus neutralization test in cattle and sheep with a history of abortion from three selected regions of Iran, providing evidence of prior SBV exposure and highlighting the need for further studies on its epidemiology and circulation.
Mohammad Kiani, Ali Asghar Moghaddam, Mohsen Lotfi, Peyman Rahimi Feyli   +3 more
wiley   +1 more source

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia. [PDF]

Nature
Jacobs J, Lyubenova H, Potelle S, Kopp J, Gerin I, Chan WL, Rodriguez de Los Santos M, Hülsemann W, Mensah MA, Cormier-Daire V, Joosten M, Bruggenwirth HT, Stuurman KE, Miranda V, Campeau PM, Wittler L, Graff J, Mundlos S, Ibrahim DM, Van Schaftingen E, Fischer-Zirnsak B, Kornak U, Ehmke N, Bommer GT.   +23 more
europepmc   +1 more source