Orofacial manifestations of achondroplasia
نویسندگان
چکیده
Achondroplasia (Online Mendelian Inheritance in Man [OMIM] 100800), is considered as a form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of special interest in the field of dentistry because of its characteristic craniofacial features which include relative macrocephaly, depressed nasal bridge and maxillary hypoplasia. Presence of large head, implanted shunt, airway obstruction and difficulty in head control requires special precautions during dental management. The current case report highlights the orofacial manifestations of Achondroplasia in a young pediatric patient, along with the multidisciplinary treatment (including the dental treatment) done for the patient which also might help the general practitioners in better understanding of the condition.
منابع مشابه
Oral 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 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...
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Achondroplasia and related chondrodysplasias are caused by heterozygous mutations of fibroblast growth factor receptor 3 (FGFR3). Virtually all patients with achondroplasia have the same mutation, and all of the FGFR3 mutations activate the FGFR3 signal transduction pathways. There is remarkable correlation between specific mutations and the severity of clinical phenotypes manifestations. The m...
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