Otorhinolaryngologic Manifestations of Hartsfield Syndrome: Case Series and Review of Literature

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 auto...

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Bibliographic Details
Published in:International journal of pediatric otorhinolaryngology 2017-07, Vol.98, p.4-8
Main Authors: Oliver, Jeremie D., BS, BA, Menapace, Deanna C., MD, Cofer, Shelagh A., MD
Format: Article
Language:English
Subjects:
Child
Child, Preschool
Cleft Lip - diagnosis
Cleft Lip - therapy
Cleft Palate - diagnosis
Cleft Palate - therapy
Cleft-lip and palate
Cupped-ear deformity
Ectrodactyly
FGFR1 gene
Fingers - abnormalities
Hand Deformities, Congenital - diagnosis
Hand Deformities, Congenital - therapy
Hartsfield syndrome
Holoprosencephaly
Holoprosencephaly - diagnosis
Holoprosencephaly - therapy
Humans
Infant
Infant, Newborn
Intellectual Disability - diagnosis
Intellectual Disability - therapy
Male
Microtia
Mutation
Otolaryngology
Pediatrics
Receptor, Fibroblast Growth Factor, Type 1 - genetics
Siblings
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Summary: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.
ISSN:0165-5876
1872-8464
DOI:10.1016/j.ijporl.2017.04.035