Otolaryngologic Manifestations of Achondroplasia
نویسندگان
چکیده
منابع مشابه
Orofacial manifestations of achondroplasia
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...
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Systemic vasculitis is a heterogeneous group of diseases of various aetiologies and manifestations. In general, the clinical results derive from ischemia caused by vascular inflammation, which depends on the organ affected. Such vasculitis cases are classified according to the classification of the Chapel Hill conference. They can present with relative frequency as ENT manifestations in both th...
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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ژورنال
عنوان ژورنال: Archives of Otolaryngology–Head & Neck Surgery
سال: 2007
ISSN: 0886-4470
DOI: 10.1001/archotol.133.3.237