%0 Case Reports
%T Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.
%A Oliver JD
%A Menapace DC
%A Cofer SA
%J Int J Pediatr Otorhinolaryngol
%V 98
%N 0
%D Jul 2017
%M 28583501
%F 1.626
%R 10.1016/j.ijporl.2017.04.035
%X Diagnosis of Hartsfield syndrome includes recognition of three distinct clinical anomalies: holoprosencephaly, ectrodactyly, and bilateral cleft-lip and palate syndrome. A family including three male siblings all affected by Hartsfield syndrome presented to our institution for care. An autosomal dominant variant in Fibroblast Growth Factor Receptor 1 (FGFR1) was identified. This report focuses on otorhinolaryngologic manifestationsof Hartsfield syndrome, previously undescribed, including midline defects of holoprosencephaly, bilateral cleft-lip and palate, retrognathia, gastroesophageal reflux disease, external ear anomalies, eustachian tube dysfunction, and midface abnormalities, in addition to multidisciplinary, long-term management strategies. Multidisciplinary management is imperative in the care of these children with modification of approach based on their medical complexity.