Townes-Brocks syndrome In Gaza Strip

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. A 9 month-old male is presented with the clinical findings of the autosomal dominant TBS in an otherwise unaffected family. Herein, we are report a Palestinian case of TBS with a full picture of anomalies including imperforate anus, abnormal thumb and, left dysplastic ears associated with genitourinary malformations. Keywords: Chromosome 16q12.1; SALL1gene; Recto-Urethral Fistula; Townes-Brocks Syndrome (TBS); Abbreviations: TBS: Townes-Brocks Syndrome; VUR: Vesico-Ureteral Reflux