congenital generalized osteosclerosis with bilateral polymicrogyria

Synopsis

 severe sclerosing bone disorder affecting all skeletal elements

• insufficient modeling
• generalized densification
• fragility of the skeleton

 craniofacial anomalies

• hypertelorism
• severe microretrognathia
• cleft palate
• absent epiglottis
• reduced number and mineralization of teeth buds

 abnormal terminal phalanges

 cerebral anomalies

• bilateral fronto-parietal cerebral polymicrogyria

See also

 skeletal dysplasia

• congenital osteosclerosis (congenital sclerotic bone disorders)

References

 Titomanlio L, Baumann C, Bonyhay G, Huten Y, Oury JF, Vuillard E, Garel C, Terdjman P, Verloes A, Delezoide AL. A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria. Am J Med Genet A. 2005 Sep 15;138(1):1-5. PMID: 16097005