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Craniosynostosis 4
- ... dwarfism. Rev Endocr Metab Disord. 2002 Dec;3(4):381-5. doi: ... craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. ...
- ... Am J Med Genet A. 2012 Apr;158A(4):917-21. doi: 10.1002/ajmg.a.35265. ...
- ... in the skull often fuse together too early (craniosynostosis). The craniosynostosis seen in people with this disorder may give ... receptor 1 (FGFR1). This protein is one of four fibroblast growth factor receptors, which are a family ...
- ... fusion of certain bones in the skull (metopic craniosynostosis) and a buildup of fluid in the brain ( ... Hudgins L. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med ...
- ... disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. ...
- ... to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in ... caused by mutations in one of at least four genes: the WDR35, IFT122, WDR19, or IFT43 gene. ...
- ... microcephaly) and premature fusion of the skull bones (craniosynostosis).Individuals with Hennekam syndrome often have intellectual disability ... of Hennekam syndrome. Clin Dysmorphol. 2003 Oct;12(4):227-32. doi: 10.1097/00019605-200310000-00003. ...
- ... problems including premature fusion of the skull bones (craniosynostosis), an abnormal side-to-side curvature of the ... syndrome 2 Genetic Testing Registry: Loeys-Dietz syndrome 4 Loeys-Dietz syndrome National Organization for Rare Disorders ( ...
- ... can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause ... hypophosphatemic rickets. Pediatr Endocrinol Rev. 2004 Jun;1(4):361-79. Citation on PubMed DiMeglio LA, Econs ...
- ... These include premature fusion of the skull bones (craniosynostosis), a flattened mid-face, a prominent forehead, and ... syndrome. Rev Endocr Metab Disord. 2007 Dec;8(4):301-7. doi: 10.1007/s11154-007-9056- ...