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Ectrodactyly–ectodermal Dysplasia–cleft Syndrome
Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome and split hand–split foot–ectodermal dysplasia–cleft syndromeFreedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as a genetic trait.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . EEC is characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts. Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections, obstruction of the nasolacrimal duct, decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in the lower eyelids, photophobia, occasional cognitive impairment and kidney anomalies, and conductive hearing loss. Presentation Ectrodactyly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Journal Of Medical Genetics
The ''Journal of Medical Genetics'' is a monthly peer-reviewed medical journal covering all aspects of medical genetics, including reviews of and opinion on the latest developments. It was established in 1964 and is published by the BMJ Group. The editor-in-chief is Huw Dorkins (University of Oxford). Abstracting and indexing The journal is abstracted and indexed in the Science Citation Index, BIOSIS Previews, Index Medicus/MEDLINE, Current Contents, Scopus, Embase, and CINAHL. According to the ''Journal Citation Reports'', the journal has a 2020 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as i ... of 6.318. References External links * BMJ Group academic journals Monthly journals Publications established in 1964 English-language journals Medical genetics journa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Conductive Hearing Loss
Conductive hearing loss (CHL) occurs when there is a problem transferring sound waves anywhere along the pathway through the outer ear, tympanic membrane (eardrum), or middle ear ( ossicles). If a conductive hearing loss occurs in conjunction with a sensorineural hearing loss, it is referred to as a mixed hearing loss. Depending upon the severity and nature of the conductive loss, this type of hearing impairment can often be treated with surgical intervention or pharmaceuticals to partially or, in some cases, fully restore hearing acuity to within normal range. However, cases of permanent or chronic conductive hearing loss may require other treatment modalities such as hearing aid devices to improve detection of sound and speech perception. Causes Common causes of conductive hearing loss include: External ear * Cerumen (earwax) or foreign body in the external auditory canal * Otitis externa, infection or irritation of the outer ear * Exostoses, abnormal growth of bone withi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |