Zobrazeno 1 - 10
of 3 343
pro vyhledávání: '"Congenital disorder"'
Publikováno v:
Nigerian Journal of Paediatrics, Vol 44, Iss 2, Pp 76-80 (2024)
Background: Contemporary understanding of the pattern of congenital anomalies is both important in its clinical management as well as in improving the overall health of the community. Methodology: All infants presenting from January to December 21
Externí odkaz:
https://doaj.org/article/625de47ae453452eba856becf937a300
Autor:
Zeeshan Ullah, Ayesha Zafar, Hira Ishaq, Zainab Umar, Amir Khan, Yaseen Badar, Nizamud Din, Muhammad Fawad Khan, Pamela McCombe, Nemat Khan
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-6 (2024)
Abstract Background Klippel–Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel–Feil syndrome exhibit diverse clinical manifestations, including sk
Externí odkaz:
https://doaj.org/article/c24c34f882634284b0066fc338866fd7
Publikováno v:
Journal of Clinical and Preventive Cardiology, Vol 13, Iss 2, Pp 50-51 (2024)
Congenital birth defects of brachy/polysyndactyly class can occur as isolated defects or as a part of syndromes and should raise suspicion of associated heart defects. Poland syndrome is one such congenital condition with its characteristic features.
Externí odkaz:
https://doaj.org/article/da30fbf2dfc0449e98b7df617b49f2a6
Publikováno v:
Clinical Case Reports, Vol 12, Iss 8, Pp n/a-n/a (2024)
Key Clinical Message This case highlights the challenges in diagnosing Bethlem myopathy, the need for a high index of suspicion, and the importance of recognizing the diverse clinical presentations of this rare condition. Enhanced understanding can a
Externí odkaz:
https://doaj.org/article/d77e2908e9cd4a97aa6559ac09519ecc
Autor:
Siddinath Gyawali, Balkrishna Gyawali, Bhumika Ghimire, Bibek Shrestha, Pratima Khanal, Geha Raj Dahal, Dinesh Prasad Koirala
Publikováno v:
Clinical Case Reports, Vol 12, Iss 6, Pp n/a-n/a (2024)
Key Clinical Message In babies presenting with an omphalocele, other components of the prune belly syndrome should be scrutinized for early diagnosis and timely intervention. Abstract A male baby on his 13th day of life presented with an omphalocele.
Externí odkaz:
https://doaj.org/article/7a2a2b436655484088bb0ed8b6dd2280
Autor:
Iván Martínez-Duncker, Ida Vanessa Doederlein-Schwartz, Melania Abreu-González, José Elías García-Ortiz
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/6fb2e451663f498097b6426ea1b01233
Autor:
Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101067- (2024)
Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia. He displays severa
Externí odkaz:
https://doaj.org/article/e88c95c60c5e4ee39c9a2bc210a5e9dd
Autor:
Maryam Fazelzadeh Haghighi, Hossein Jafari Khamirani, Jafar Fallahi, Ali Arabi Monfared, Korosh Ashrafi Dehkordi, Seyed Mohammad Bagher Tabei
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)
Abstract Background FCSK‐congenital disorder of glycosylation (FCSK‐CDG) is a recently discovered rare autosomal recessive genetic disorder with defective fucosylation due to mutations in the fucokinase encoding gene, FCSK. Despite the essential
Externí odkaz:
https://doaj.org/article/7ccb8cb61b94404a93e9180efbf1e4a7
Autor:
Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, Wasantha Ranatunga, Earnest James Paul Daniel, Mario E. Cruz Muñoz, Melania Abreu, Héctor Mora-Montes, Miao He, Eva Morava, Gildardo Zafra de la Rosa
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in ALG2, which encodes an α
Externí odkaz:
https://doaj.org/article/79c48e7605864d46adf586bb565c6aa1
Autor:
Carolina Ferreira Gonçalves, Patrícia Lipari Pinto, Ana Raquel Claro, Joana Coelho, Sofia Quintas, Márcia Rodrigues, Paula Costa, Ana Margalha Miranda, Mónica Rebelo, Célia Nogueira, Patrícia Janeiro, Ana Gaspar
Publikováno v:
Journal of Pediatric and Neonatal Individualized Medicine, Vol 13, Iss 1, Pp e130111-e130111 (2024)
Defects in the mitochondrial DNA (mtDNA) cause mtDNA depletion syndrome (MTDPS), a subclass of mitochondrial disorders that are genetically and phenotypically heterogeneous. MTDPS is a rare autosomal recessive disease caused by a mutation of a nuclea
Externí odkaz:
https://doaj.org/article/8a4f4f77c2a54e5da9dc5fde1feb02a7