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
The articles in Bibliomed are open access articles licensed under Creative Commons Attribution 4.0 International License (CC BY), which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
We use cookies and other tracking technologies to work properly, to analyze our website traffic, and to understand where our visitors are coming from. More InfoGot It!
