منابع مشابه
Adams Oliver Syndrome and Congenital Deafness
Admas-Oliver syndrome is a rare autosomal dominant disease of congenital development defects association with aplasia cutis. All of 81 reported cases were of 32 group families. These two cases had congenital scalp cutis aplasia with developmental defect and hypoplasia of left foot digits in case 1.Congenital deaf-mute in both can added to the past known findings in this syndrome. Thoracic defor...
متن کاملMicrocephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome
Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...
متن کاملDuane's syndrome and familial perceptive deafness.
A 15-year-old girl, who had a left-sided Duane's syndrome, was noted to be profoundly deaf with a severe speech defect. The deafness had been detected at the age of 5 years and necessitated her attendance at a special school. A slight facial asymmetry was present and she adopted an abnormal head posture, turning the head to the left side. Some degree of mental retardation was present but no oth...
متن کاملSyndromic Deafness – Variant of Waardenburg syndrome
Childhood deafness is quite bothersome and a common problem. EBM documents that serious hearing impairment is found in one in 800 newborns. Amongst the 50 percent of permanent childhood deafness, 30 percent is syndromic and is thought to be because of abnormal genetic makeup. Syndromic cases of deafness are more accurately diagnosed by the associated additional features of the syndrome. Waarden...
متن کاملTone deafness: a new disconnection syndrome?
Communicating with one's environment requires efficient neural interaction between action and perception. Neural substrates of sound perception and production are connected by the arcuate fasciculus (AF). Although AF is known to be involved in language, its roles in non-linguistic functions are unexplored. Here, we show that tone-deaf people, with impaired sound perception and production, have ...
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ژورنال
عنوان ژورنال: AUDIOLOGY JAPAN
سال: 1973
ISSN: 1883-7301,0303-8106
DOI: 10.4295/audiology.16.521