Twiddler′s syndrome revisited
نویسندگان
چکیده
منابع مشابه
PENDRED\'S SYNDROME REVISITED
Pendred's syndrome is defined as a triad of congenital perceptive hearing loss, goiter, and abnormal perchlorate test. Three brothers with Pendred's syndrome [P.S.] are reported. The oldest brother has hearing loss (he has been deaf and mute since childhood) and has a large goiter. A thyroid scan revealed euthyroid multinodular goiter and a perchlorate test was performed, and reported abno...
متن کاملUSHER\'S SYNDROME REVISITED
Usher's syndrome is a genetically inherited autosomal recessive disorder resulting in the double handicap of deafness and progressive blindness, known as retinitis pigmentosa. The disease is also associated with psychoses, mental retardation, and other major neurophysiological changes. It appears to be more common among Jewish individuals and consanguinous marriages. While it is rare in th...
متن کاملusher's syndrome revisited
usher's syndrome is a genetically inherited autosomal recessive disorder resulting in the double handicap of deafness and progressive blindness, known as retinitis pigmentosa. the disease is also associated with psychoses, mental retardation, and other major neurophysiological changes. it appears to be more common among jewish individuals and consanguinous marriages. while it is rare in th...
متن کاملpendred's syndrome revisited
pendred's syndrome is defined as a triad of congenital perceptive hearing loss, goiter, and abnormal perchlorate test. three brothers with pendred's syndrome [p.s.] are reported. the oldest brother has hearing loss (he has been deaf and mute since childhood) and has a large goiter. a thyroid scan revealed euthyroid multinodular goiter and a perchlorate test was performed, and reported...
متن کاملPanayiotopoulos Syndrome - Revisited
Paediatric epileptic syndromes are easily identified by the classical seizure semiologies and the electrical signatures of these epilepsies. However some of the less discussed entities can cause diagnostic confusion by their bizarre manifestations. One such scenario is that of a child presenting with ictal vomiting with or without autonomic manifestations. This intriguing epileptic phenomenolog...
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: Journal of the Practice of Cardiovascular Sciences
سال: 2015
ISSN: 2395-5414
DOI: 10.4103/2395-5414.177254