Duane's syndrome and familial perceptive deafness.
نویسنده
چکیده
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 other general physical abnormalities were detected. A urinary amino acid chromatogram did not show any abnormalities.
منابع مشابه
Cervico-oculo-acusticus syndrome with pseudopapilloedema.
The triad of the Klippel-Feil anomaly, Duane's retraction syndrome, and deaf-mutism was described by Wildervanck (1960) as the cervico-oculoacusticus syndrome. The Klippel-Feil anomaly essentially comprises a variety of bony deformities of the cervical spine, usually involving fusion, which appear clinically as a short neck with a limited range of movements of the head and neck and a low poster...
متن کاملInheritance of Duane's syndrome.
Also, evidence for "formes frustes" of Duanes' syndrome in other family members in the forni of pareses of oculomotor muscles other than the lateral rectus or of slight narrowing of the palpebral fissure on adduction, has been reported by FranSois and de Vos (I958) and by Orlowski, Krych, and MIichniowska-Leonowicz (I96I). Most of the above observations have been confined to single sibships, or...
متن کاملCongenital perceptive deafness: role of intrauterine rubella.
Rubella antibody was detected in 85 (61%) of 139 children aged from 6 months to 7 years with congenital perceptive deafness. Of the 112 children who were aged under 4 years 61 (54%) had rubella antibody (seropositive) compared with 7.1% in randomly selected children of the same age. A close correlation was found between the presence of antibody in children with perceptive deafness and (1) a mat...
متن کاملCockayne's syndrome: case report.
The clinical features in a new non-familial case of Cockayne's syndrome comprised the usual components: dwarfism with microcephaly, severe mental subnormality, progeria-like appearance of the face, pigmented retinopathy, and severe perceptive deafness. The patient also suffered from grand mal epilepsy and died in status epilepticus at the age of 22 years. The neuropathological findings were sev...
متن کاملAn 18 p - Syndrome due to 15 / 18 with Facial Palsy and Deafness Translocation
ADACHI, K. and HAYASHI, M. An 18pSyndrome due to 15/18 Translocation with Facial Palsy and Deafness. Tohoku J. exp. Med., 1981, 133 (3), 307-311 A case of translocation between chromosomes No. 15 and 18 was described. Phenotype of the patient was almost consistent with that of the 18psyndrome. In addition to the typical feature of 18psyndrome, he had perceptive deafness, and abducens nerve and ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 53 5 شماره
صفحات -
تاریخ انتشار 1969