Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature

Int J Pediatr Otorhinolaryngol. 2017 Jul:98:4-8. doi: 10.1016/j.ijporl.2017.04.035. Epub 2017 Apr 24.

Abstract

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.

Keywords: Cleft-lip and palate; Cupped-ear deformity; Ectrodactyly; FGFR1 gene; Hartsfield syndrome; Holoprosencephaly; Microtia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Cleft Lip / diagnosis*
  • Cleft Lip / therapy
  • Cleft Palate / diagnosis*
  • Cleft Palate / therapy
  • Fingers / abnormalities*
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / therapy
  • Holoprosencephaly / diagnosis*
  • Holoprosencephaly / therapy
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / therapy
  • Male
  • Mutation
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*
  • Siblings

Substances

  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1

Supplementary concepts

  • Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate