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Bent bone dysplasia syndrome
Other Names for this Disease
- Bent bone dysplasia (BBD)-FGFR2 type
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craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones.  Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia). This condition is associated with mutations in the FGFR2 gene.Bent bone dysplasia syndrome is a lethal skeletal disorder characterized by poor mineralization of the skull (calvarium),
Last updated: 11/7/2012
- Merrill, AE, et.al.. Am J Hum Genet. March 9, 2012; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309195/. Accessed 1/1/1900.
- Bent Bone Dysplasia Syndrome; BBDS. OMIM. April 25, 2012; http://www.omim.org/entry/614592. Accessed 11/7/2012.
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In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Bent bone dysplasia syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Merrill, A. et.al, Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling, Am J Hum Genet. 2012 March 9; 90(3); 550-557.