Townes-Brocks syndrome with hypothyroidism.
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. Hypothyroidism is not a recognized feature of TBS. We are reporting a case of TBS with hypothyroidism, a rare association.
Goswami
Vivek
V
Kalawati Saran Children's Hospital, New Delhi 110 001, India.
Dubey
N K
NK
D000015:Abnormalities, Multiple; D001006:Anus, Imperforate / Q000150:complications; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006801:Humans; D007037:Hypothyroidism / Q000150:complications*; D007668:Kidney / Q000002:abnormalities; D013577:Syndrome