Zobrazeno 1 - 10
of 295
pro vyhledávání: '"Craniofacial dysmorphism"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract Background Hemifacial macrosomia (HFM, OMIM 164210) is a complex and highly heterogeneous disease. FORKHEAD BOX I3 (FOXI3) is a susceptibility gene for HFM, and mice with loss of function of Foxi3 did exhibit a phenotype similar to craniofac
Externí odkaz:
https://doaj.org/article/a2fdf4cfeaf4416ea59086f526c25b6e
Autor:
Zuzana Marincak Vrankova, Jan Krivanek, Zdenek Danek, Jiri Zelinka, Alena Brysova, Lydie Izakovicova Holla, James K. Hartsfield, Petra Borilova Linhartova
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Pediatric obstructive sleep apnea (POSA) is a complex disease with multifactorial etiopathogenesis. The presence of craniofacial dysmorphisms influencing the patency of the upper airway is considered a risk factor for POSA development. The craniofaci
Externí odkaz:
https://doaj.org/article/410097a93ebd4e8f9dc91d3c852df072
Publikováno v:
Kerala Journal of Ophthalmology, Vol 35, Iss 1, Pp 17-19 (2023)
Marshall-Smith syndrome (MSS) is an extremely rare developmental disorder characterized by accelerated skeletal maturation, failure to thrive, dysmorphic facies, respiratory difficulties, and neurological abnormalities. Herein, the authors report bil
Externí odkaz:
https://doaj.org/article/31873d661987466eb3da56426054c2d1
Akademický článek
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Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Raine syndrome is a congenital disorder caused by biallelic mutations in the FAM20C gene. While most diagnosed cases of the syndrome are lethal in the first few months of life, there are also reports of non-lethal cases with Raine syndrome. The chara
Externí odkaz:
https://doaj.org/article/8f49822fc90f416c854d9814384510cf
Autor:
Kasturi Bhattacharjee, Obaidur Rehman, Vatsalya Venkatraman, Don Kikkawa, Harsha Bhattacharjee, Rahul Gogoi, Aditi Mehta Grewal, Pragya Bhattacharjee
Publikováno v:
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2346-2354 (2022)
The current literature review aims to evaluate the ocular findings and associated ophthalmic features in Crouzon syndrome. Craniosynostoses are syndromes characterized by premature fusion of sutures of the skull and Crouzon syndrome is the most commo
Externí odkaz:
https://doaj.org/article/042b4e4bb0b64ccb8ff33d6c09a5885c
Autor:
Nadia Kolsi, Fatma Boudaya, Afef Ben Thabet, Manel Charfi, Chiraz Regaieg, Amira Bouraoui, Ridha Regaieg, Nedia Hentati, Amel Ben Hamed, Abdellatif Gargouri
Publikováno v:
Clinical Case Reports, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract Treacher Collins syndrome (TCS) is one of the rare genetic syndromes which is specified by symmetrical craniofacial dysmorphism without growth abnormalities or neurological disorders. The inheritance is usually autosomal dominant but sometim
Externí odkaz:
https://doaj.org/article/96a7fa1144504c9ab5c91a3806340fe5
Autor:
Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Marek Niedziela, Anna Sowińska-Seidler, Paweł Sztromwasser, Aleksander Jamsheer, Monika Obara-Moszyńska
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Cardio-facio-cutaneous syndrome (CFCS) belongs to the group of RASopathies, clinical disorders defined by disruptions in the RAS/MAPK signaling pathway. It is caused by heterozygous gain-of-function germline mutations in genes encoding protein kinase
Externí odkaz:
https://doaj.org/article/5ce6f21eef864344a103eb137674f7c1
Akademický článek
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Autor:
Alina Grama, Claudia Sîrbe, Diana Miclea, Simona Sorana Cǎinap, Delia Huniadi, Bogdan Bulata, Tudor Lucian Pop
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. PTLS is also frequently
Externí odkaz:
https://doaj.org/article/225b30cb0e2e4f26930414ce59e158f4