Case of Pseudo-Rachitic Achondroplasia
نویسندگان
چکیده
منابع مشابه
[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.
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Achondroplasia is the most common skeletal dysplasia and it combines various complications with normal longevity. Hearing disturbance due to otitis media or an ossicular anomaly is one of the most common complications. Conductive hearing loss is suggested as the most common form of hearing loss. Temporal bone and middle ear structures are distorted in achondroplasia because of rotational change...
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Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many tissues, most strikingly the cartilaginous...
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Dwarfism may be due to several musculoskeletal and hormonal growth disorders. The most common cause is considered to be achondroplasia, a condition due to a mutation affecting the fibroblast growth factor receptor (FGFR) gene 3. Achondroplasia occurs with equal frequency in males and females. It is inherited in an autosomal dominant manner. At least 80% of cases result from a random new mutatio...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1915
ISSN: 0035-9157
DOI: 10.1177/003591571500801812