Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome?
Townes Brocks syndrome is an autosomal dominant multiple malformations syndrome comprising of ear anomalies/hearing loss, limb defects, anal, genitourinary, eye, spine anomalies, heart defects and sometimes mental retardation. This report presents the case of a 21-year-old secondary school leaver as a likely case of Townes-Brocks syndrome. He was born with congenital abnormalities consisting of fixed flexion deformities of hands, wrist and elbows, urethral meatal stenosis, scoliosis and aortic stenosis. He was diagnosed with obstructive uropathy at the age of 19 years and subsequently developed chronic renal failure. The report aims to highlight the need for early recognition of potentially preventable conditions, which, if left unattended to, can lead to unnecessary fatality.
Unuigbe
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Department of Medicine, University ofBenin Teaching Hospital Benin City. evelynunuigbe@hotmail.com
Azubike
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CA
Okaka
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EI
Osarenkhoe
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JO
Onuora
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VC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D007676:Kidney Failure, Chronic / Q000175:diagnosis* / Q000209:etiology / Q000517:prevention & control; D008297:Male; D013577:Syndrome; D014525:Urethral Stricture / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D014551:Urinary Tract / Q000002:abnormalities*