Multimodal imaging in non-syndromic microphthalmia: a case series
نویسندگان
چکیده
منابع مشابه
Sporadic and Non-syndromic Bilateral Humeroradial Synostosis: A Case Report
Non-syndromic bilateral humeroradial synostosis is a very rare congenital anomalies of the upper limbs. This condition often occurs in conjunction with various syndromes and is associated with a positive family history. Herein, we report a 6 year old boy with non-syndromic bilateral humeroradial synostosis, without aplasia, hypoplasia or family history. Both elbows were constant at 90 degrees f...
متن کاملBilateral 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 کاملNon-syndromic oligodontia: a case report.
BACKGROUND oligodontia is a condition with developmental absence of six or more permanent teeth excluding the third molars. It is a rare finding which has not been frequently documented in Nigerian children. OBJECTIVE to report a case of non syndromic oligodontia. METHODS The details of the clinical presentation, course and outcome of a 9-year-old child with oligodontia were reviewed. The c...
متن کاملNon Syndromic Oligodontia: Case Report
Oligodontia is a rare genetic disorder which represents the congenital absence of more than six teeth in primary, permanent or both dentitions. It is usually a part of a syndrome and seldom occurs as an isolated entity. Genes responsible for non syndromic oligodontia are found to be MSX1 and PAX9 genes. In this case report a 13 year old boy is presented who had absence of all four second perman...
متن کاملHomozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma
PURPOSE To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico. METHODS Ophthalmic examinations were conducted on each family member to confirm their diagnosis and magnetic resonance imaging (MRI) or ultrasonog...
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: PAMJ Clinical Medicine
سال: 2020
ISSN: 2707-2797
DOI: 10.11604/pamj-cm.2020.3.79.23696