Background: Achondroplasia is a relatively frequent genetic disorder that may lead to limb weakness, motor-mental retardation, hydrocephaly, and respiratory disorders. In this pathology, foramen magnum stenosis and accompanying disorders like respiratory depression is well documented. Case Presentation: A 2.5 year-old child with the diagnosis of achondroplasia admitted to our clinic with severe respiratory depression, limb weakness, and motor mental retardation as well as sympathetic dysfunction. In radiologic evaluations, severe foramen magnum stenosis was detected. The patient was operated and posterior fossa decompression was accomplished to prevent compression of respiratory centers and neurons. Conclusion: This case is unique with the ...
Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathog...
A 20-year-old achondroplastic dwarf developed severe papilledema over a short period of time. Since ...
Forty-eight patients with achondroplasia and 24 with hypochondroplasia have been reviewed in order t...
Background: Achondroplasia is a relatively frequent genetic disorder that may lead to limb weakness,...
WOS: 000302835400021PubMed ID: 23056871Background: Achondroplasia is a relatively frequent genetic d...
Background: Achondroplasia is a relatively frequent genetic disorder that may lead to limb weakness,...
Hypochondroplasia was first reported in the English literature by Beals (1969). The features are sim...
Introduction Achondroplasia is associated with foramen magnum stenosis (FMS) which can lead to sudde...
Achondroplasia is caused by the failure of bone growth at the cartilaginous end plate and is the mos...
Disease characteristics. Achondroplasia is characterized by abnormal bone growth that results in sho...
Achondroplasia is one of the common chondrodysplasias with an inheritance is autosomal dominant, but...
the important role of SEPs in detection of cervicomedullary compression in achondroplastic children ...
© 2019, Springer-Verlag GmbH Germany, part of Springer Nature. Object: The purpose of this work is t...
Achondroplasia is the result of a mutation in the gene encoding the type 3 receptor for a fibroblast...
The authors report the first example of an adult achondroplastic dwarf with progressive quadriparesi...
Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathog...
A 20-year-old achondroplastic dwarf developed severe papilledema over a short period of time. Since ...
Forty-eight patients with achondroplasia and 24 with hypochondroplasia have been reviewed in order t...
Background: Achondroplasia is a relatively frequent genetic disorder that may lead to limb weakness,...
WOS: 000302835400021PubMed ID: 23056871Background: Achondroplasia is a relatively frequent genetic d...
Background: Achondroplasia is a relatively frequent genetic disorder that may lead to limb weakness,...
Hypochondroplasia was first reported in the English literature by Beals (1969). The features are sim...
Introduction Achondroplasia is associated with foramen magnum stenosis (FMS) which can lead to sudde...
Achondroplasia is caused by the failure of bone growth at the cartilaginous end plate and is the mos...
Disease characteristics. Achondroplasia is characterized by abnormal bone growth that results in sho...
Achondroplasia is one of the common chondrodysplasias with an inheritance is autosomal dominant, but...
the important role of SEPs in detection of cervicomedullary compression in achondroplastic children ...
© 2019, Springer-Verlag GmbH Germany, part of Springer Nature. Object: The purpose of this work is t...
Achondroplasia is the result of a mutation in the gene encoding the type 3 receptor for a fibroblast...
The authors report the first example of an adult achondroplastic dwarf with progressive quadriparesi...
Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathog...
A 20-year-old achondroplastic dwarf developed severe papilledema over a short period of time. Since ...
Forty-eight patients with achondroplasia and 24 with hypochondroplasia have been reviewed in order t...