Konjenital Fasiyal Paralizi ve Mikst Tip İşitme Kaybının Eşlik Ettiği Fankoni Aplastik Anemisi

Growth retardation, microcephaly, hypoplasia or aplasia of thumb, renal and urinary tract anomalies, skin pigmentation and eye anomalies are well known signs of Fanconi aplastic anemia. While congenital sensorineural hearing loss is an unusual symptom, congenital facial paresis does not accompany Fanconi anemia routinely. We report an 11-year-old boy with Fanconi aplastic anemia with growth retardation, microcephaly, left thumb agenesia, renal agenesia who also has mixed type hearing loss (HL) and congenital facial paresis. The patient has both congenital sensorineural HL and conductive type HL due to tubal dysfunction. Tubal dysfunction was explained by microcephaly. Facial paresis could be a co-incidence or an undefined component of this disorder. Therefore, we conclude that patients with Fanconi anemia should be evaluated for hearing and facial nerve functions. Key words: Fanconi aplastic anemia, Congenital facial paralysis, Hearing loss