-transparent.png){kind=logo}
BACKGROUND Townes-Brocks syndrome (TBS) is a rare autosomal dominant entity mainly characterized by ano-rectal, ear and extremities abnormalities with variable clinical expression. METHODS The first case had ear and extremities, but not anorectal, abnormalities; a Pierre-Robin sequence with esophageal atresia was also observed. The second case had the classical triad of abnormalities also associated with tetralogy of Fallot which has been only once reported in the literature. CONCLUSIONS Both cases are other examples of the frequent clinical variability observed in this syndrome explaining diagnostic difficulties in the absence of a specific marker.
Related Publications
P Parent, and
M Bensaid, and
H Le Guern, and
A Colin, and
L Broussine, and
A Chabarot, and
A Cozic, and
B Jehannin, and
L de Parscau
July 2004,
Indian pediatrics,
P Parent, and
M Bensaid, and
H Le Guern, and
A Colin, and
L Broussine, and
A Chabarot, and
A Cozic, and
B Jehannin, and
L de Parscau
February 1999,
Journal of medical genetics,
P Parent, and
M Bensaid, and
H Le Guern, and
A Colin, and
L Broussine, and
A Chabarot, and
A Cozic, and
B Jehannin, and
L de Parscau
December 1990,
European journal of pediatrics,
P Parent, and
M Bensaid, and
H Le Guern, and
A Colin, and
L Broussine, and
A Chabarot, and
A Cozic, and
B Jehannin, and
L de Parscau
January 1996,
Ryoikibetsu shokogun shirizu,
P Parent, and
M Bensaid, and
H Le Guern, and
A Colin, and
L Broussine, and
A Chabarot, and
A Cozic, and
B Jehannin, and
L de Parscau
July 1990,
Journal of medical genetics,
P Parent, and
M Bensaid, and
H Le Guern, and
A Colin, and
L Broussine, and
A Chabarot, and
A Cozic, and
B Jehannin, and
L de Parscau
April 1996,
Anales espanoles de pediatria,
P Parent, and
M Bensaid, and
H Le Guern, and
A Colin, and
L Broussine, and
A Chabarot, and
A Cozic, and
B Jehannin, and
L de Parscau
February 2007,
Indian pediatrics,
P Parent, and
M Bensaid, and
H Le Guern, and
A Colin, and
L Broussine, and
A Chabarot, and
A Cozic, and
B Jehannin, and
L de Parscau
January 1999,
Genetic counseling (Geneva, Switzerland),
P Parent, and
M Bensaid, and
H Le Guern, and
A Colin, and
L Broussine, and
A Chabarot, and
A Cozic, and
B Jehannin, and
L de Parscau
April 2020,
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus,
P Parent, and
M Bensaid, and
H Le Guern, and
A Colin, and
L Broussine, and
A Chabarot, and
A Cozic, and
B Jehannin, and
L de Parscau
January 1992,
TSitologiia i genetika,
