Zobrazeno 1 - 10
of 1 022
pro vyhledávání: '"Facial dysmorphism"'
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Background The 2q31 deletion results in a distinct phenotype characterized by varying degrees of developmental delay, short stature, facial dysmorphism, and variable limb defects. Dysmorphic features include microcephaly, downslanting palpeb
Externí odkaz:
https://doaj.org/article/091d90f3fd75443a9802816d14013fc2
Autor:
Ebtesam Al-Enezi, Mohannad Alghamdi, Khaled Al-Enezi, Mohammed AlBalwi, William Davies, Wafaa Eyaid
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)
Abstract Background Helsmoortel-Van der Aa syndrome was officially documented in 2014. Helsmoortel-Van der Aa syndrome is an extremely rare complex neurodegenerative disorder characterized by reduced intellectual capacity, motor dysfunction, facial d
Externí odkaz:
https://doaj.org/article/4391b1ee20994c5dbbc096c1d8e63eee
Publikováno v:
Oral Oncology Reports, Vol 11, Iss , Pp 100612- (2024)
Nance Horan Syndrome (NHS) is a rare congenital genetic condition. However, due to the sporadicity of cases and the similarity in manifestations of mild NHS with X-linked cataracts, it is difficult for clinicians and researchers to diagnose and treat
Externí odkaz:
https://doaj.org/article/0aa701cf29cc4e29bfef603bc766c718
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)
Abstract Objective This study aims to report a severe phenotype of Arboleda‐Tham syndrome in a 20‐month‐old girl, characterized by global developmental delay, distinct facial features, intellectual disability. Arboleda‐Tham syndrome is known
Externí odkaz:
https://doaj.org/article/712e25b51d4d443cb7e80f0c59585754
Publikováno v:
Global Pediatrics, Vol 7, Iss , Pp 100124- (2024)
Schinzel-Giedion syndrome (SGS) is a rare genetic syndrome characterized by severe developmental delay, facial dysmorphism, seizures, and multiple congenital malformations. Affected children have increased risk of developing neuroepithelial brain tum
Externí odkaz:
https://doaj.org/article/77ec9a643f7f4d83a214836eabc3ef9e
Publikováno v:
Гинекология, Vol 25, Iss 2, Pp 267-272 (2023)
The article describes a clinical case demonstrating the effect of fetal alcohol syndrome on a preschool child's development, demonstrating the challenging diagnosis of this disorder, often leading to irreversible congenital mental and physical defect
Externí odkaz:
https://doaj.org/article/95a2fe5fccd449f6a6b04f4947083c2d
Autor:
Fábio Rosindo Daher de Barros, Caio Novais F. da Silva, Gabriel de Castro Michelassi, Helena Brentani, Fátima L.S. Nunes, Ariane Machado-Lima
Publikováno v:
Heliyon, Vol 9, Iss 10, Pp e20517- (2023)
Neurodevelopment disorders can result in facial dysmorphisms. Therefore, the analysis of facial images using image processing and machine learning techniques can help construct systems for diagnosing genetic syndromes and neurodevelopmental disorders
Externí odkaz:
https://doaj.org/article/dd6a9c5c26bb40b0b1695afe9d3f98ae
Publikováno v:
Journal of Oral Medicine and Oral Surgery, Vol 30, Iss 1, p 1 (2024)
Introduction: SATB2-associated syndrome is an extremely rare genetic disorder. It is characterized by delayed neurocognitive development, craniofacial anomalies and dental defects. Observation: This case report highlights the craniofacial and dental
Externí odkaz:
https://doaj.org/article/aea2c9a65c4f4c13a4b22d0a587023f0
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