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Franceschetti–Klein–Wildervanck Syndrome
Wildervanck syndrome or cervico-oculo-acoustic syndrome comprises a triad of: * Duane syndrome * Klippel-Feil anomaly (fused cervical vertebrae) * congenital hearing loss Wildervanck syndrome is a developmental disorder that may be characterized by accessory tragi An accessory auricle is considered a developmental anomaly resulting from the persistence of a structure which variably recapitulates the normal external ear. Signs and symptoms The general presentation is of a skin-covered nodule, papule, or nod .... References External links Syndromes affecting hearing Medical triads Rare diseases {{Nervoussystem-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Duane Syndrome
Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane, who discussed the disorder in more detail in 1905. Other names for this condition include: Duane's retraction syndrome, eye retraction syndrome, retraction syndrome, congenital retraction syndrome and Stilling-Türk-Duane syndrome. Presentation The characteristic features of the syndrome are: *Limitation of abduction (outward movement) of the affected eye. *Less marked limitation of adduction (inward movement) of the same eye. *Retraction of the eyeball into the socket on adduction, with associated narrowing of the palpebral fissure (eye closing). *Widening of the palpebral fissure on attempted abduction. (N. B. Mein and Trimble point out that this is "probably of no significance" as the phenomenon also occu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Accessory Tragi
An accessory auricle is considered a developmental anomaly resulting from the persistence of a structure which variably recapitulates the normal external ear. Signs and symptoms The general presentation is of a skin-covered nodule, papule, or nodule of the skin surface, usually immediately anterior to the auricle. However, it may be anywhere within the periauricular tissues. Bilateral presentation can be seen. Genetics A study of a family with 11 affected showed the accessory auricle were inherited in an autosomal Dominance (genetics), dominant manner. Diagnosis The lesions presents as a nodule or papule, either sessile or pedunculated. They may be soft or have a cartilaginous structure. By histologic examination, it is a recapitulation of normal external auricle. There will be skin, cartilaginous structures, and cartilage (although the later is not seen in all variants of this disorder). Some investigators believe that the tragus (ear), tragus is the only hillock which is deriv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting Hearing
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Triads
Medicine is the science and practice of caring for a patient, managing the diagnosis, prognosis, prevention, treatment, palliation of their injury or disease, and promoting their health. Medicine encompasses a variety of health care practices evolved to maintain and restore health by the prevention and treatment of illness. Contemporary medicine applies biomedical sciences, biomedical research, genetics, and medical technology to diagnose, treat, and prevent injury and disease, typically through pharmaceuticals or surgery, but also through therapies as diverse as psychotherapy, external splints and traction, medical devices, biologics, and ionizing radiation, amongst others. Medicine has been practiced since prehistoric times, and for most of this time it was an art (an area of skill and knowledge), frequently having connections to the religious and philosophical beliefs of local culture. For example, a medicine man would apply herbs and say prayers for healing, o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
