Additional case of Keipert syndrome and review of the literature.
We report on a 7-year-old boy with unusual facial features, severe bilateral sensorineural hearing loss, and broad terminal phalanges. These findings are similar to those described by Keipert et al. in two brothers and by Balci and Dagli in two other male siblings. Our patient has, in addition, developmental delay and abnormal behaviour. To the best of our knowledge, this is only the third report of Keipert syndrome.
Cappon
S M
SM
Department of Paediatrics, Queen's University and Kingston General Hospital, Kingston, Canada.
Khalifa
M M
MM
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000235:genetics; D008040:Genetic Linkage; D006228:Hand Deformities, Congenital / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008297:Male; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics