Results 11 to 20 of about 698 (166)

Nosology of genetic skeletal disorders: 2023 revision. [PDF]

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
The "Nosology of genetic skeletal disorders" has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Ali, H., Bertola, D.R., Calder, A., Cohn, D.H., Cormier-Daire, V., Ferreira, C.R., Girisha, K.M., Hall, C., Krakow, D., Makitie, O., Mortier, G.R., Mundlos, S., Nishimura, G., Robertson, S.P., Savarirayan, R., Sillence, D., Simon, M., Superti-Furga, A., Sutton, V.R., Unger, S., Warman, M.L.   +20 more
core   +2 more sources

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect. [PDF]

Clin Genet
We report a patient with biallelic loss of function variants in BMP5 and a syndromic phenotype including ischio‐pubic‐patellar dysostosis, dysmorphism, hypermobility, laryngo‐tracheo‐bronchomalacia, and atrioventricular septal defect. Our findings suggest a new association between BMP5 variants and a range of developmental anomalies, thereby increasing
Gregersen PA, Hammarsjö A, Graversen L, Brix N, Lindelöf H, Jensen UB, Farholt S, Rubak S, Bjerre J, Piticchio SG, Terkelsen T, Nishimura G, Hellfritzsch MB, Grigelioniene G.   +13 more
europepmc   +2 more sources

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. [PDF]

PLoS Genetics, 2016
The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and ...
Felipe Marques, Jessica Tenney, Ivan Duran, Jorge Martin, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H Cohn, Bing Li   +8 more
doaj   +1 more source

Development of an interdisciplinary microtia‐atresia care model: A single‐center 20‐year experience

Laryngoscope Investigative Otolaryngology, Volume 7, Issue 6, Page 2103-2111, December 2022., 2022
The care of patients with microtia and aural atresia is significantly fragmented across the nation. In this paper, we analyze the clinical characteristics and management of microtia‐atresia patients at our center over a 20‐year period, describe our current interdisciplinary patient‐care model and propose recommendations for the advancement of microtia ...
Krupa R. Patel, Liliya Benchetrit, Evette A. Ronner, Jessica Occhiogrosso, Tessa Hadlock, David Shaye, Alicia M. Quesnel, Michael S. Cohen   +7 more
wiley   +1 more source

Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH)

Journal of Bone and Mineral Research, Volume 37, Issue 8, Page 1580-1591, August 2022., 2022
Half and 5 of 8 heterozygous SLC34A3 carriers had osteoporosis and a history of fractures, respectively. Individuals with detected nephrocalcinosis had significantly increased 1,25‐OH2‐D3 levels and urinary calcium excretion but normal phosphate reabsorption rates.
Julian Stürznickel, Fiona Heider, Alena Delsmann, Markus Gödel, Johannes Grünhagen, Tobias B Huber, Uwe Kornak, Michael Amling, Ralf Oheim   +8 more
wiley   +1 more source

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Molecular Genetics &Genomic Medicine, Volume 9, Issue 9, September 2021., 2021
Phenotyping and genetic analyses in 169 probands referred for primary microcephaly produced a molecular diagnosis in 38, with ASPM and WDR62 most prevalent in non‐consanguineous patients, and a total diagnostics rate of 67% in consanguineous patients. Our series includes 11 novel pathogenic variants and reveals epilepsy as a more frequent feature than ...
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz   +37 more
wiley   +1 more source

BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype

Molecular Genetics &Genomic Medicine, Volume 9, Issue 3, March 2021., 2021
In this study, we have identified a family with two members affected by brachydactyly type A2 caused by BMPR1B mutation. Abstract Background Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients’ phenotypes, brachydactylies have been subdivided into 10 subtypes. In
Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katarzyna Serwan, Michał Świerniak, Adam Kot, Krystian Jażdżewski, Anna Wójcicka   +16 more
wiley   +1 more source

Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early‐Onset Osteoporosis (EOOP)

Journal of Bone and Mineral Research, Volume 36, Issue 2, Page 271-282, February 2021., 2021
ABSTRACT Reduced bone mineral density (BMD; ie, Z‐score ≤−2.0) occurring at a young age (ie, premenopausal women and men <50 years) in the absence of secondary osteoporosis is considered early‐onset osteoporosis (EOOP). Mutations affecting the WNT signaling pathway are of special interest because of their key role in bone mass regulation.
Julian Stürznickel, Tim Rolvien, Alena Delsmann, Sebastian Butscheidt, Florian Barvencik, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, Ralf Oheim   +9 more
wiley   +1 more source

Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]

, 2013
Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan, Devi, Pinky, MK, Goutham, Naik, Sarika s, Naik, Sudhir M, S, Ravishankar, SM, Annapurna   +6 more
core   +2 more sources

Craniofacial Surery in Crouzons and Aperts Disease

Indian Journal of Plastic Surgery, 1989
The authors experience with three cases of craniofacial dysostoses and reconstruction in young children is presented. The literature on the subject has been briefly reviewed.
J. C. Sharma, S. Biswas, H. S. Gill, D. V. Chibber, A. S. Bath, B. B. Dogra, S. S. Nesargi   +6 more
doaj   +1 more source