Congenital Stapes Fixation with Symphalangism.
نویسندگان
چکیده
منابع مشابه
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
Human noggin (NOG) is a responsible gene for multiple synostosis syndrome (SYNS1) and proximal symphalangism (SYM1), two conditions that are recently known to be within a wider range of clinical manifestations of stapes ankylosis with symphalangism. This study was performed to determine the range of phenotype caused by NOG mutations, using Japanese patients with various phenotypes including spo...
متن کاملCongenital Stapes Anomalies with Normal Eardrum
OBJECTIVES A non-progressive and conductive hearing loss with normal eardrum, but no history of trauma and infection, is highly suggestive of a congenital ossicular malformation. Among ossicular anomalies, stapes anomaly is the most common. The purpose of this study is to describe patterns of stapes anomaly and to analyze its surgical outcome with special reference to its patterns. METHODS We...
متن کاملX-linked mixed hearing loss with stapes fixation: case reports.
X-linked mixed hearing loss with stapes fixation is a congenital, recessive anomaly. The condition is characterized by progressive mixed hearing loss, reduced vestibular responses, and congenital fixation of the stapes with perilymph gusher encountered during surgical intervention. This paper describes the audiologic history of a family with two affected male children and one carrier female chi...
متن کاملDistal symphalangism associated with camptodactyly.
A Japanese family in which four patients in three generations had distal symphalangism associated with camptodactyly is reported. All of these patients had extension limitation of the proximal interphalangeal joints of the toes of both feet. Radiographs of the hands and feet, undertaken in three cases, showed no bone fusion of the distal and proximal interphalangeal joints. This malformation is...
متن کاملBilateral Congenital Absence of the Stapes Superstructure in Two Siblings
Middle ear ossicle malformations are an uncommon event. Among them, the congenital absence of the stapes is a very rare condition that is seldom described in the literature. We report the cases of two women, aged 19 and 22 , who presented with a long history of conductive deafness. An exploratory tympanotomy was performed and the absence of the stapes superstructure and an abnormal position of ...
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: Practica Oto-Rhino-Laryngologica
سال: 1998
ISSN: 1884-4545,0032-6313
DOI: 10.5631/jibirin.91.218