Zobrazeno 1 - 10
of 509
pro vyhledávání: '"Frontal Bossing"'
Autor:
Lorenzo Curtò, Francesco Ferraù
Publikováno v:
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 107, Iss 2, Pp 1-5 (2019)
Acromegaly is a rare chronic, progressive endocrine disorder usually due to a growth hormone (GH)-secreting pituitary adenoma and characterized by progressive anatomical disfigurement, mainly involving face and extremities, and metabolic dysfunctions
Externí odkaz:
https://doaj.org/article/9e69173b8f9742bab365621ba8c9e871
Akademický článek
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Publikováno v:
Pharmacogenomics and Personalized Medicine
Purpose Mowat–Wilson syndrome (MWS) is a rare complex malformation syndrome which is characterized by typical facial dysmorphism, moderate to severe intellectual disability, global developmental delay, and multiple congenital anomalies. Here, we su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5234274cff09f23d49bbea895de32bca
https://doi.org/10.2147/pgpm.s320128
https://doi.org/10.2147/pgpm.s320128
Autor:
Hülya Kayserili, Dilek Uludağ Alkaya, Sukru Palanduz, Ercan Mihci, Nilay Güneş, Banu Güzel Nur, Elifcan Taşdelen, Güven Toksoy, Sukru Ozturk, Tugba Kalayci, Zehra Oya Uyguner, Zuhal Bayramoglu, Beyhan Tüysüz, Umut Altunoglu, Leyla Elkanova, Ezgi Gizem Berkay, Volkan Karaman, Kivanc Cefle
Publikováno v:
American Journal of Medical Genetics Part A. 185:2488-2495
Loss or decrease of function in runt-related transcription factor 2 encoded by RUNX2 is known to cause a rare autosomal-dominant skeletal disorder, cleidocranial dysplasia (CCD). Clinical spectrum and genetic findings in 51 CCD patients from 30 unrel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3cdc5099a357ca74e90954c1da84212b
https://doi.org/10.1002/ajmg.a.62261
https://doi.org/10.1002/ajmg.a.62261
Publikováno v:
NeoReviews. 22:e194-e197
A term 2,535-g female infant is born to a 26-year-old primigravida who is in a non-consanguineous relationship at 37+0 weeks of gestation via cesarean section for breech presentation. Pregnancy complications include nonsevere preeclampsia. Prenatal l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3083751c35b3091799c4f00495971f14
https://doi.org/10.1542/neo.22-3-e194
https://doi.org/10.1542/neo.22-3-e194
Publikováno v:
Case Reports in Ophthalmological Medicine, Vol 2021 (2021)
Case Reports in Ophthalmological Medicine
Case Reports in Ophthalmological Medicine
Background. We describe a case of an infant with Arnold-Chiari Malformation Type II (ACM-II) who was born with lumbosacral myelomeningocele, hydrocephalus, and primary congenital glaucoma (PCG) together with dysmorphic features (scaphocephaly, fronta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7262f3d4928f1c83219ec91cc54500
https://doi.org/10.1155/2021/4808346
https://doi.org/10.1155/2021/4808346
Akademický článek
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Publikováno v:
Journal of Dental Specialities. 8:21-25
Odontogenic keratocysts (OKCs) may occur in two different forms, either as solitary (non syndromic OKCs) or as multiple OKCs (syndromic OKCs). Multiple OKCs are usually associated with Gorlin–Goltz syndrome with features like skin carcinomas and bi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::461fb5ad6a20f33345813136e4aa0a22
https://doi.org/10.18231/j.jds.2020.006
https://doi.org/10.18231/j.jds.2020.006
Autor:
Joao Bosco Oliveira, Amanda Virginia Cavalcante, Catherine Castro, Timothy B. Niewold, Simone Appenzeller, Luciana B Paim-Marques, Theresa Wampler Muskardin
Publikováno v:
Rheumatology International. 41:219-225
Cryopyrin-associated periodic syndromes (CAPS) are a group of autoinflammatory diseases associated with NLRP3 gain of function mutations. CAPS associated mutations are found predominantly in exon 3. The objective of this study is to describe a new va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7a1f6326dac6d43ba6e9e08cd46b147
https://doi.org/10.1007/s00296-020-04683-5
https://doi.org/10.1007/s00296-020-04683-5
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 4, Pp 272-276 (2020)
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 4, Pp 272-276 (2020)
Longitudinal bone growth is primarily mediated by the growth plate, which is a specialized cartilaginous structure. Aggrecan, encoded by ACAN, is a primary proteoglycan component of the extracellular matrix in both the growth plate and articular cart
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9f308d38824336dc4f47637fe1f320d
http://europepmc.org/articles/PMC7788345
http://europepmc.org/articles/PMC7788345