Ozkan Ilhan, Evren Gumus, Nilay Hakan, Hande Istar, Bugra Harmandar, Hasim Olgun, Suleyman Cuneyt Karakus, Nesat Cullu, Juergen Kohlhase, James D Sutherland, Rosa Barrio
Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge...
June 2024: Journal of Pediatric Genetics