منابع مشابه
The prevalence of thoracolumbar kyphosis in achondroplasia: a systematic review
PURPOSE Thoracolumbar kyphosis (TLK) is described as a common presentation in children with achondroplasia. However, the prevalence and development of TLK are ill-defined, as well as its clinical implications. The goal of this study was to assess the existing evidence on the prevalence and development of TLK from the literature. METHODS A systematic literature review was performed in PubMed, ...
متن کاملSpondylectomy and lateral lumbar interbody fusion for thoracolumbar kyphosis in an adult with achondroplasia
RATIONALE Fixed thoracolumbar kyphosis with spinal stenosis in adult patients with achondroplasia presents a challenging issue. We describe the first case in which spondylectomy and minimally invasive lateral access interbody arthrodesis were used for the treatment of fixed severe thoracolumbar kyphosis and lumbar spinal canal stenosis in an adult with achondroplasia. PATIENT CONCERNS A 61-ye...
متن کاملAchondroplasia.
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...
متن کاملAchondroplasia Associated with Bilateral Keratoconus
We report a rare case of bilateral keratoconus in association with achondroplasia. A 26-year-old male, with a known case of achondroplasia, complained of bilateral gradual deterioration in vision for the past few years. Slit lamp biomicroscopy showed bilateral central corneal protrusion and stromal thinning at the apex consistent with keratoconus. a trial of hard contact lens fitting failed to ...
متن کاملThree cases of achondroplasia with neurological complications.
The role played by congenital malformations of the skull and spine in the production of lesions of the central nervous system has been increasingly appreciated in recent years. In the skull premature synostosis of the sutures of the vault (craniostenosis) can lead to optic atrophy and symptoms of intracranial hypertension. Hydrocephalus and compression of the brain stem and upper cervical cord ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1933
ISSN: 0035-9157
DOI: 10.1177/003591573302600821