67 Abnormal Oral Mucosal Light Reflectance in Achondroplasia
نویسندگان
چکیده
منابع مشابه
Oral mucosal grafts: old technique in new light.
PURPOSE To present an update on indications and efficacy of oral mucosal grafts in the clinical management of ocular surface diseases focusing on the new developments of the last 5 years. METHODS Pubmed research on the databases of the years 2007 up to 2012 for the key words mucous membrane graft and eye, fornix reconstruction, eyelid reconstruction, and conjunctival replacement. RESULTS We...
متن کاملFGFR3 mutation causes abnormal membranous ossification in achondroplasia.
FGFR3 gain-of-function mutations lead to both chondrodysplasias and craniosynostoses. Achondroplasia (ACH), the most frequent dwarfism, is due to an FGFR3-activating mutation which results in impaired endochondral ossification. The effects of the mutation on membranous ossification are unknown. Fgfr3(Y367C/+) mice mimicking ACH and craniofacial analysis of patients with ACH and FGFR3-related cr...
متن کامل[Oral manifestations of achondroplasia, a case report].
Achondroplasia a common form of dwarfism, caused by a single recurrent point mutation in more than 97% of patients, is an autosomal dominant disorder with an incidence of approximately 1/7500. The name of this disease was called Chondrodystrophia foetalis before Parrot in 1878 reported the name of this disease as Achondroplasia, distinguished from other similar diseases. The present case report...
متن کاملOral Manifestation of Achondroplasia - A Case Report
Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism. It belongs to a group of disorders called chondrodystrophies or osteochondrodysplasias. It is a congenital genetic disorder resulting in rhizomedic dwarfism and is the most common skeletal dysplasia. This case report highlights the oral manifestation of a 3 year old male patient with achondroplasia.
متن کاملOral mucosal changes in
1Department of Medicine, 2Department of coeliac patients on a Medical Microbiology, University of Turku, Turku, 3Department of Pediatrics, University Hospital of Tampere and Institute of Medical gluten-free diet Technology, University of Tampere, Tampere, 4Central Laboratory, University Hospital of Turku, 5Turku City Hospital, Turku, 6MediCity Research Laboratory and Lähteenoja H, Toivanen A, V...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2004
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-200409000-00090