Pycnodysostosis: An Anaesthetic Approach to This Rare Genetic Disorder
نویسندگان
چکیده
منابع مشابه
Pycnodysostosis: An Anaesthetic Approach to This Rare Genetic Disorder
Pycnodysostosis (the Toulouse-Lautrec syndrome) is a rare autosomal-recessive disorder of osteoclast dysfunction. This disorder was first described by Maroteaux and Lamy in 1962. We describe anaesthetic management of a 35-year-old female having pyknodysostosis with fracture shaft left femur with anticipated difficult intubation. Therefore, spinal anesthesia was planned for her fracture fixation...
متن کاملPycnodysostosis: Clinicoradiographic Report of a Rare Case
Pycnodysostosis is an uncommon autosomal recessive sclerosing bone disorder which is characterized by short stature and generalized diffuse osteosclerosis. Patients usually have a large head with separated sutures, open fontanels, aplasia of frontal sinuses, obtuse mandibular gonial angle, and acroosteolysis of the distal phalanges. This case report showed a 25-year-old female with features pat...
متن کاملComprehensive Approach to Analyzing Rare Genetic Variants
Recent findings suggest that rare variants play an important role in both monogenic and common diseases. Due to their rarity, however, it remains unclear how to appropriately analyze the association between such variants and disease. A common approach entails combining rare variants together based on a priori information and analyzing them as a single group. Here one must make some assumptions ...
متن کاملCrouzon’s Syndrome: A Rare Genetic Disorder
Crouzon's syndrome, also known as brachial arch syndrome, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the b...
متن کاملProgeria: A rare genetic premature ageing disorder
Progeria is characterized by clinical features that mimic premature ageing. Although the mutation responsible for this syndrome has been deciphered, the mechanism of its action remains elusive. Progeria research has gained momentum particularly in the last two decades because of the possibility of revealing evidences about the ageing process in normal and other pathophysiological conditions. Va...
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: Case Reports in Anesthesiology
سال: 2013
ISSN: 2090-6382,2090-6390
DOI: 10.1155/2013/716756