Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review
نویسندگان
چکیده
منابع مشابه
Bilateral Dentigerous Cysts in a Non-Syndromic Patient: Literature Review and Report of a Case
Introduction: Dentigerous cysts (DCs) are the most common developmental cysts of the jaws, mostly associated with impacted third molars and canines. Multiple or bilateral DCs are rare and typically occur in association with some syndromes including cleidocranial dysplasia and Gorlin-Goltz. The occurrence of multiple DCs is rare in the absence of these syndromes. Case Presentation: A 28-year-ol...
متن کاملPyrexia in a Patient with Megaloblastic Anemia: A Case Report and Literature Review
Deficiency of vitamin B12 and/or folic acid as a cause of pyrexia, though known, is rarely reported in literature. We aimed to report a case in a 51 year old woman, who presented with fever and pancytopenia and was diagnosed to have megaloblastic anemia secondary to vitamin B12 and folate deficiency. The pyrexia subsided following the intramuscular injection of vitamin B12 and oral folic acid a...
متن کاملMcCune-Albright Syndrome: A Case Report and Literature Review
McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
متن کاملBilateral Synovial Knee Chondromatosis in a Patient with Rheumatoid Arthritis: Case-report and Literature Review
We presented a female patient with RA complaining of progressive pain, swelling, and crepitation of the knee joints that was diagnosed with bilateral synovial chondromatosis (SC) of both knees. Radiographies revealed characteristic findings of SC including multiple calcified multifaceted loose bodies within both knees. Removal of cartilaginous segments as well as total synovectomy was performed...
متن کاملDuane retraction syndrome in a Nigerian child
We report a case of a four year old Nigerian girl who presented to the paediatric unit of our eye clinic with complaints of a squint on looking to the right side and reduction in the size of the right eye when looking to the left. On examination, she had right exotropia in the primary position of gaze. There was limitation of abduction and widening of the palpebral fissure of the right eye on r...
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: Molecular Cytogenetics
سال: 2020
ISSN: 1755-8166
DOI: 10.1186/s13039-020-00510-5