Two cases of Townes-Brocks syndrome with previously undescribed anomalies.
Townes-Brocks syndrome is characterized by the association of anorectal, radial ray and outer ear malformations and deafness. We describe two patients affected with several typical clinical signs of Townes-Brocks syndrome in addition to growth and puberty delays and vertebral anomalies not previously reported.
Marlin
S
S
Toublanc
J E
JE
Petit
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics*; D002574:Cervical Vertebrae / Q000002:abnormalities; D002648:Child; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*