Results 61 to 70 of about 6,534 (202)

Achondroplasia and Down’s Syndrome – Case Report of a Rare Association [PDF]

, 2011
The association of achondroplasia and Down’s syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that ...
Santos, S, Silva, T, Pinto, M
core   +2 more sources

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

Nature Communications
Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using ...
Michiel Vanneste, Hanne Hoskens, Seppe Goovaerts, Harold Matthews, Jay Devine, Jose D. Aponte, Joanne Cole, Mark Shriver, Mary L. Marazita, Seth M. Weinberg, Susan Walsh, Stephen Richmond, Ophir D. Klein, Richard A. Spritz, Hilde Peeters, Benedikt Hallgrímsson, Peter Claes   +16 more
doaj   +1 more source

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 832-841, May 2026.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois, Louise Paret, Jacqueline Aziza, Paul Guerby, Christophe Vayssière, Charlotte Dubucs   +5 more
wiley   +1 more source

Achondroplasia: Etiology, Clinical Presentation, and Management

, 2017
By using a literature review, this article examines the implications of achondroplasia. The following areas are discussed: the clinical definition of the disease; the incidence, etiology, and pathogenesis; phenotypical characteristics and natural history
Daugherty, Allyson, Allyson Daugherty
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European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition.
AlSayed, Moeenaldeen, Pejin, Zagorka, Cormier-Daire, Valérie, Maghnie, Mohamad, Innig, Florian, Sousa, Sérgio B., Guillén-Navarro, Encarna, Mohnike, Klaus, Irving, Melita, Fredwall, Svein Otto, Kunkel, Philip, Boero, Silvio, Mortier, Geert, Fredwall, Svein, Ben-Omran, Tawfeg, Sousa, Sérgio, Fauroux, Brigitte, Lampe, Christian, Sessa, Marco   +18 more
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Case of twin achondroplasia and autism coexistence and literature review

, 2023
Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with chromosomal abnormalities such as Down syndrome, monogenic syndromes such as tuberous sclerosis, Fragile X, and Rett syndrome, and ...
Uzun, Necati, Caksen, Huseyin, Bilgec, Nagehan, Balasar, Ozgur, Pekcan, Sevgi, Bedel, Fayize Maden   +5 more
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Glioblastoma multiforme mimicking falx meningioma with achondroplasia: Case report

, 2014
Achondroplasia is a type of genetic dwarfism with an undefined cause. There are no reports of glioblastoma multiforme mimicking a falx meningioma alongside achondroplasia in the literature.
Şengöz, Ahmet, Kayacı, Selim, Günver, Feray, Köksal, Vaner, Kılıç, Kaya   +4 more
core   +1 more source

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Orphanet Journal of Rare Diseases, 2023
Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden of ...
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike   +25 more
doaj   +1 more source

A Case of Congenital Hypothyroidism in Cats: Diagnostic Challenges and Therapeutic Outcomes

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
Congenital hypothyroidism in a 3‐year‐old Persian cat was diagnosed via low total thyroxine levels unresponsive to TSH stimulation, alongside clinical signs of dwarfism and renal failure. Levothyroxine therapy significantly improved renal function and activity within 1 week.
Morteza Ezati Kakalar, Farkhondeh Fahim Dezhban, Amin Zamani, Sina Sabour Razlighi   +3 more
wiley   +1 more source

Makna Tubuh bagi Penyandang ACHONDROPLASIA

, 2020
Penelitian ini bertujuan untuk mendeskripsikan gambaran tentang; (1) pengalaman dan peristiwa yang dialami oleh penyandang Achondroplasia, (2) perasaan terkait peristiwa yang dialami, (3) gambaran keinginan terhadap hidup, (4) pemaknaan tubuh mini bagi ...
AZIZATUR ROFIQIYAH, HIFNI, WAHYUDI, ARI
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