Cervico-Oculo-Acoustic Syndrome in a Male with Consanguineous Parents
نویسندگان
چکیده
منابع مشابه
Wildervanck or cervico-oculo-acoustic syndrome and MRI findings.
In 1952, Wildervanck described the first case of what he styled the cervico-oculo-acoustic (COA) syndrome. This comprises Klippel Feil's (KF) anomaly (congenitally fused cervical vertebrae), congenital sensorineural deafness and Duane's retraction syndrome (deficient abduction with retraction on adduction). Since that original paper, there have been further reports describing this triad, either...
متن کاملCervico-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...
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We describe a female infant with the cervical vertebral fusion (Klippel-Feil) syndrome whom we recognized at birth because of her short neck, restriction of cervical movement, and low posterior hairline. X-ray examination showed anomalies of C1, and between C2-3 and C3-4; thus, we classified her as type II, with variable cervical fusion. At 24 months she was small and manifested hearing deficie...
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Leprechaunism is a rare autosomal recessive disorder associated with extreme insulin resistance with paradoxical hypo-glycaemia. It is characterised by prenatal and postnatal growth retardation, reduced subcutaneous tissue, coarse features, acanthosis nigricans, enlarged genitalia, and death in the first year of life. Defects in both the insulin receptor and postreceptor steps of the insulin ac...
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Two boys with bilateral agenesis of kidneys and ureters were the product of a consanguineous marriage. This family and previous reports of familial bilateral renal agenesis support the supposition that a minor proportion of cases of BRA is caused by the homozygous state of an autosomal recessive gene.
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2006
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100005059