SUN-522 Hypoparathyroidism: When to Suspect Barakat Syndrome: A Case Report
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چکیده
منابع مشابه
When to suspect a genetic syndrome.
Family physicians should be able to recognize findings on physical examination and history that suggest the presence of a genetic syndrome to aid in the diagnosis and treatment of potentially affected patients, as well as subspecialty referral. General themes that can alert family physicians to the presence of genetic conditions include dysmorphic features that are evident on physical examinati...
متن کاملConcomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome.
Barakat syndrome, also known as hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an extremely rare congenital disorder. Different etiologies are described for the syndrome but the definite pathophysiology remains unclear. Hereby, we present a case of Barakat syndrome who was diagnosed on the basis of clinical and molecular data.
متن کاملWhen to suspect a genetic syndrome
A genetic syndrome is a clinical situation that combines major and minor malformations, anomalies of growth and of psychomotor development . Prompt recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests, the performance of wellinformed genetic counseling related to issues such as prognosis and future family planning and...
متن کاملHypoparathyroidism as the First Mani-Festation of Kearns-Sayre Syndrome: A Case Report
Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms of this condition include retinitis pigmentosa, chronic progressive external ophthalmoplegia, and one or more of the following factors: cardiac conduction system diseases, cerebellar ataxia, and cerebrospinal fluid (CSF) with protein content above 100 mg/dL. The nature of thi...
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: ...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2019
ISSN: 2472-1972
DOI: 10.1210/js.2019-sun-522