[Anotia, facial paralysis, heart abnormalities: specific triad or variant of Goldenhar syndrome?].
A girl was born with anotia, facial palsy and cardiac malformations. Her case is compared with three other similar ones described in the literature, and the question is raised as to whether this is a new clinical entity or represents a variation of Goldenhar syndrome.
Bretton Chappuis
B
B
Institut universitaire de Génétique médicale, CMU, Genève.
Engel
E
E
D004423:Ear / Q000002:abnormalities*; D005158:Facial Paralysis / Q000150:complications*; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D013577:Syndrome
Anotie, paralysie faciale, malformations cardiaques: triade spécifique ou variante du syndrome de Goldenhar?