Osteogenesis imperfecta

Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
10842295
 FEMALE Infant, Newborn
New case of Cole-Carpenter syndrome.
Amor DJ, Savarirayan R, Schneider AS, Bankier A.
Am J Med Genet. 2000;92(4):273-7.
We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia.