1/26. Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters.We describe two sisters (ages 10 and 3 years, respectively) with a normal development and a combination of congenital sensorineural hearing loss, partial agenesis of the corpus callosum, arachnoid cyst, and hydrocephalus. Neither girl has distinctive physical anomalies. In the oldest girl, there was a hearing loss of 80 dB bilaterally, and the most severe loss on audiogram was seen at 2,000-4,000 Hz. In the youngest girl, there was a hearing loss of 100 dB bilaterally. Above 2,000 Hz no neural reactions were seen. Cerebral magnetic resonance imaging in one girl and computed tomography in the other showed a partial agenesis of the corpus callosum and a cyst in the pineal region, causing an aqueduct stenosis by compression and consequent hydrocephalus. The parents have normal hearing, and brain magnetic resonance imaging showed no abnormalities. They are nonconsanguineous but from the same small village. This is the first report of a combination of congenital sensorineural hearing loss, partial agenesis of the corpus callosum, and an arachnoid cyst. The pattern of inheritance is probably autosomal recessive.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/26. Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2).We report on an 18-month-old Japanese girl with 46,XX,del(22)(q13.1q13.2). To our knowledge, this is the first report of a case of interstitial deletion of a 22q13.1-q13.2 segment. Clinical features included hearing loss accompanied by inner ear anomalies, hypotonia and minor anomalies, such as a long philtrum, full eyelids, epicanthus, left transverse palmar crease and psychomotor developmental delay. Despite the chromosomal deletion, her physical growth was accelerated: her height was between the 75th and 90th percentiles for her age. Her brain MRI showed signs of delayed myelination. The three-dimensional MRI of the inner ear showed abnormalities of the cochlea and vestibule in both ears. Clinical features of the patient are similar to those of a patient with a del(22)(q13.1q13.33) karyotype previously reported by Romain et al.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/26. Otorhinolaringologic manifestation of smith-magenis syndrome.smith-magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome link to a contiguous-gene deletion syndrome, involving chromosome 1 7p 11.2,whose incidence is estimated to be 1:25,000 livebirth. SMS is characterised by a specific physical, behavioural and developmental pattern. The main clinical features consist of a broad flat midface with brachycefaly, broad nasal bridge, brachydactily, speech delay, hoarse deep voice and peripheral neuropathy. Behavioural abnormalities include hypermotility, self-mutilation and sleep disturbance. This report defines the otorhinolaryngological aspects of a new case of SMS, confirmed by cytogenetic-molecular analysis, in a 9 year old girl affected by chronic otitis media, deafness and sinusitis, who presented with typical clinical signs and symptoms.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/26. trisomy 8 syndrome.trisomy 8 syndrome, with or without mosaicism, is characterized by the following clinical signs and symptoms: mental retardation, deformed skull, prominent forehad, high-arched palate, low-set and/or dysplastic ears, long and slender trunk, reduced joint mobility, and deep plantar furrows. The deep furrow or longitudinal crease of the sole may be pathognomonic for the syndrome. It should be noted that it has been seen in other rare syndromes. It is recommended that a child with mental retardation and associated multiple anomalies should be subjected to a cytogenetic study in order to define the incidence of this syndrome. Differnetial diagnosis should include: Fong's syndrome, arthrogryposis and otopalato-digital syndrome. It is interesting to note that there seem to be individuals who have had no physical abnormalities and have been identified during an evaluation for repeated abortions. The above described case of trisomy 8 mosaicism was seen and treated for many years by many different specialists without an accurate diagnosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/26. Inverted papilloma of the sphenoid sinus presenting with auditory symptoms: a report of two cases.OBJECTIVES: The report aims to inform the reader of cases of inverted papilloma involving the sphenoid sinus presenting with auditory symptoms. STUDY DESIGN: Case series. methods: A retrospective medical record analysis was carried out to identify patients with inverted papilloma involving the sphenoid sinus that presented with a primary complaint of hearing loss or tinnitus, or both. Clinical records, including initial history and physical examination, audiologic and radiologic studies, and operative and histopathologic reports, were carefully examined. A complete literature review for relevant studies was performed to explore possible pathophysiologic factors and similar cases. RESULTS: Two patients with inverted papilloma presenting with primary auditory complaints were identified. One patient had roaring tinnitus and sensorineural hearing loss demonstrated with audiologic assessment, whereas the other had pulsatile tinnitus. Both patients had biopsy-proven inverted papilloma involving the sphenoid sinus, and both patients underwent endoscopic resection of the disease. No other cause or origin of their auditory symptoms was confirmed. The auditory symptoms of both patients improved markedly after excision of their inverted papillomas. CONCLUSIONS: tinnitus with or without hearing loss is an unusual presentation of inverted papilloma of the sphenoid sinus. Sphenoid tumors should be considered in the workup of these symptoms.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/26. The impact of developmental visuospatial learning difficulties on British sign language.There has been substantial research interest in recent years in the relationship between the development of language and cognition, especially where dissociations can be seen between them. williams syndrome, a rare congenital disorder characterized by a fractionation of higher cortical functions, with relatively preserved language but marked difficulties with visuospatial constructive cognition, has been extensively studied. The case of Heather, who is remarkably similar to the characteristic phenotype of williams syndrome in physical appearance and cognitive abilities, but who is also congenitally deaf and a user of British sign language, provides the first opportunity to explore the consequences of specific visuospatial learning difficulties on the linguistic system when the language used is visuospatial. Heather shows a pattern of impaired drawing ability and visual form discrimination, but preserved ability to discriminate faces. She has a large vocabulary in British sign language, and overall presents a picture of relative competence in British sign language grammar. However, she shows specific deficits in those areas of British sign language which directly rely on spatial representations for linguistic purposes. A number of theories as to the nature of her impairments and those found in williams syndrome are discussed, using models of the relationship between language and visuospatial cognition based on data from this unique case.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/26. genetic counseling for the deaf.genetic counseling is a process that emphasizes accurate diagnosis of hereditary conditions and communication of information to families. genetic counseling involves systematic collection of family and medical history, a physical examination by a certified clinical geneticist, sharing of information with the family, and follow-up and support services. The issues that arise in genetic counseling can differ for every family and are often dependent on the degree of deafness present in the family, age of onset, and linguistic and cultural orientation. It is important for the genetic counselor to consider these factors in the provision of genetic services. With the increasing application of molecular genetics to the diagnosis and management of hereditary deafness and the increasing participation of families with deafness in research studies, the involvement of genetic counselors to provide information and education to consumers as well as medical professionals and researchers is becoming even more critical. The success of genetic counseling for the provision of information to families and the delineation of types of hereditary deafness through clinical and laboratory research is dependent on appropriate referrals by medical professionals, including otolaryngologists. A working relationship between otolaryngologists and clinical geneticists for the referral and evaluation of patients with hereditary deafness or deafness of "unknown" etiology is important.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/26. Cervico-oculo-acousticus syndrome with pregnancy.Cervico-oculo-acousticus syndrome is a very rare entity with only 21 cases described in the world literature. A study of a case of this syndrome with pregnancy is presented. This primigravida, in addition to the classical triad of the syndrome, had other dysmorphic features such as short stature (141 cm), and marked thoracic kyphosis with restricted ventilatory capacity. Her physical activity during pregnancy was guided according to her respiratory status. In spite of marked thoracic kyphosis the cephalo-pelvic relationship was found to be adequate for a vaginal delivery. A healthy male baby weighing 3.8 kg was delivered by an outlet forceps at term. Puerperium was uneventful. The child was clinically normal at the age of 2 years.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/26. The use of hypnosis in a deaf patient with multiple personality disorder: a case report.We present the first report of multiple personality disorder (MPD) in a prelingually deaf patient and the first description of alter personalities as the source of auditory hallucinations in a nonpsychotic deaf person. This young woman's history and clinical symptoms of MPD did not differ from those of hearing patients. A hypnotic trance was induced by instructing the patient in muscle relaxation, modeling relaxation with exhalation, and having the patient focus her gaze on the hypnotist repeatedly fingerspelling R-E-L-A-X. hypnosis facilitated automatic handwriting, allowed the first meeting with an alter personality, and speeded the diagnostic process. Fingerspelling has not previously been reported in hypnosis of the deaf. It is a practical means of induction for a therapist who lacks fluent signing skills. It provides a narrow fix of gaze and avoids induction by physical stimulation, a process that some abused patients find upsetting.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/26. deafness: ever heard of it? Delayed recognition of permanent hearing loss.Records of approximately 1,000 children seen for evaluation of developmental delay during the period July 1979 to December 1985 were reviewed; 46 children with permanent hearing loss were identified. Age at diagnosis of deafness and factors contributing to delay in diagnosis were sought. Mean age at diagnosis of profound congenital deafness was 24 months. Lesser degrees of congenital hearing loss were not diagnosed until 48 months of age. High-risk medical history or physical anomalies associated with embryologic abnormalities of the auditory system that should have triggered a prompt search for deafness went unheeded in most instances. In 40% of subjects, the author was the first to diagnose hearing loss. For two thirds of this subgroup, audiologic referral was prompted by medical, physical, or developmental findings rather than clinically evident hearing loss during physical examination. Adherence to specific historical, physical, or developmental risk criteria, regardless of the examiner's subjective impression of how well the child seems to hear, would have permitted the timely diagnosis of hearing impairment in all children in this series.- - - - - - - - - - ranking = 4keywords = physical (Clic here for more details about this article) |
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