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Last Updated: 10/31/2025
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Found 85 publications
Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?
Journal: Journal of clinical medicine
Published: August 16, 2025
Upper Airway Obstruction Trends in Craniofacial Syndromes: A Comparative Study.
Journal: The Journal of craniofacial surgery
Published: March 01, 2025
Facial asymmetry in syndromic craniosynostosis patients undergoing midface surgery compared to a large general population.
Journal: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
Published: January 07, 2025
A "Smurf-Cap" head requiring total cranial vault reshaping. A novel syndromic presentation of craniofrontonasal dysplasia associated with spina bifida.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: December 05, 2024
Craniofrontonasal syndrome in a patient with an inv(X)(p22.2q13.1), separating EFNB1 from its enhancer.
Journal: European journal of human genetics : EJHG
Published: June 06, 2024
Clinical and genetic analysis of a patient with Craniofrontonasal syndrome
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 22, 2023
No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B.
Journal: Clinical case reports
Published: March 05, 2023
Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are EFNB1 Variants Associated with Autoimmunity?
Journal: Pharmaceuticals (Basel, Switzerland)
Published: November 19, 2022
Craniomaxillofacial morphology in a murine model of ephrinB1 conditional deletion in osteoprogenitor cells.
Journal: Archives of oral biology
Published: January 12, 2022
Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
Journal: Frontiers in pediatrics
Published: September 08, 2021
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.
Journal: Orphanet journal of rare diseases
Published: April 25, 2021
Last Updated: 10/31/2025