[Clinical heterogeneity of Townes-Brocks syndrome].
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.
Parent
P
P
Service de pédiatrie et génétique médicale, CHU Morvan, Brest, France.
Bensaid
M
M
Le Guern
H
H
Colin
A
A
Broussine
L
L
Chabarot
A
A
Cozic
A
A
Jehannin
B
B
de Parscau
L
L
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001003:Anal Canal / Q000002:abnormalities*; D004431:Ear, External / Q000002:abnormalities*; D004933:Esophageal Atresia / Q000150:complications / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D010855:Pierre Robin Syndrome / Q000150:complications / Q000235:genetics; D012007:Rectum / Q000002:abnormalities*; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000150:complications / Q000235:genetics
Hétérogénéité clinique du syndrome de Townes-Brocks.