Article
Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.
International journal of pediatric otorhinolaryngology - 1 Jul 2017
Oliver Jeremie D, Menapace Deanna C, Cofer Shelagh A
Abstract excerpt
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...
Topics
- Child
- Child, Preschool
- Cleft Lip
- Cleft Palate
- Fingers
- Hand Deformities, Congenital
- Holoprosencephaly
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability