Optimal management of complications associated with achondroplasia
نویسندگان
چکیده
منابع مشابه
Optimal management of complications associated with achondroplasia
Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical features that impact on growth and development, with a complex array of medical issues that are best managed through a multidisciplinary team approach. The complexi...
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 کاملClinical management of achondroplasia.
Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children. In addition, a specific group of complications occur more frequently in children with achondroplasia. These include common but usually relatively minor complications such as recurrent otitis media, and rar...
متن کاملAnaesthetic management of achondroplasia.
We report a patient with achondroplasia who presented for emergency Caesarean section. Endotracheal intubation was not difficult. The reaction of this patient to drugs such as thiopentone and tubocurarine, judged on body weight basis, was normal.
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 ...
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ژورنال
عنوان ژورنال: The Application of Clinical Genetics
سال: 2014
ISSN: 1178-704X
DOI: 10.2147/tacg.s51485