نتایج جستجو برای: craniofacial abnormalities

تعداد نتایج: 108607  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2002
Sara C Ahlgren Vijaya Thakur Marianne Bronner-Fraser

Alcohol is a teratogen that induces a variety of abnormalities including brain and facial defects [Jones, K. & Smith, D. (1973) Lancet 2, 999-1001], with the exact nature of the deficit depending on the time and magnitude of the dose of ethanol to which developing fetuses are exposed. In addition to abnormal facial structures, ethanol-treated embryos exhibit a highly characteristic pattern of c...

Journal: :Open Journal of Pediatrics 2022

Introduction: Popliteal pterygium syndrome is a rare birth defect, combining craniofacial, genitourinary and musculoskeletal abnormalities. It an autosomal dominant disease caused by mutation in the IRF6 gene. We report this observation 1st Guinean case corrected surgical method as well review of literature for diagnostic therapeutic approach. Patient observation: present 7-day old male newborn...

Journal: :Clinical genetics 2011
S Beiraghi V Leon-Salazar B E Larson M T John M L Cunningham A Petryk J L Lohr

Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteristic features of this syndrome overlap in both inheritance forms, which make the clinical differential diagnosis difficult, especially in isolated cases. The objective of this study was to identify differences in the craniofacial and intraoral...

Journal: :Journal of biomedical materials research. Part B, Applied biomaterials 2009
Ricardo A Rossello David H Kohn

Defects in craniofacial tissues, resulting from trauma, congenital abnormalities, oncologic resection or progressive deforming diseases, may result in aesthetic deformity, pain and reduced function. Restoring the structure, function and aesthetics of craniofacial tissues represents a substantial clinical problem in need of new solutions. More biologically-interactive biomaterials could potentia...

Journal: :Human molecular genetics 2013
Roman H Khonsari Atsushi Ohazama Ramin Raouf Maiko Kawasaki Katsushige Kawasaki Thantrira Porntaveetus Sarah Ghafoor Peter Hammond Michael Suttie Guillaume A Odri Richard N Sandford John N Wood Paul T Sharpe

Polycystin 2 (Pkd2), which belongs to the transient receptor potential family, plays a critical role in development. Pkd2 is mainly localized in the primary cilia, which also function as mechanoreceptors in many cells that influence multiple biological processes including Ca(2+) influx, chemical activity and signalling pathways. Mutations in many cilia proteins result in craniofacial abnormalit...

2018
David Epel

Prenatal exposure to alcohol (ethanol) results in a continuum of physical and neurological developmental abnormalities that vary depending on the timing, duration, and degree of alcohol exposure. Heavy exposure during development may lead to the condition Fetal Alcohol Syndrome [6] (FAS), characterized by growth deficits, neurological deficiencies and minor facial abnormalities. Alcohol is a kn...

2018

Prenatal exposure to alcohol (ethanol) results in a continuum of physical and neurological developmental abnormalities that vary depending on the timing, duration, and degree of alcohol exposure. Heavy exposure during development may lead to the condition Fetal Alcohol Syndrome [6] (FAS), characterized by growth deficits, neurological deficiencies and minor facial abnormalities. Alcohol is a kn...

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