Kliniczne rozpoznanie zespołu Townesa-Brocksa u niemowlęcia – opis przypadku

*Katarzyna Wójcicka, Zdzisław Domagała

Summary
Townes-Brocks syndrome (TBS) is a rare multiple malformation syndrome with clinical variability. The diagnosis is based on the presence of malformations of the ears, limbs, kidneys and urinary tract and anus. Disease results from mutation in SALL1 gene, although its absence does not exclude the diagnosis. The article reports a 8-month-old infant with dysplastic ears, bilateral hearing loss, triphalangeal thumbs, overlapping fingers and toes and vesicoureteral reflux into the solitary functioning left kidney. Congenital anomalies seen in the members of the family confirm phenotypic variability of this condition.

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