A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

✍ Scribed by Luigi Titomanlio; Clarisse Baumann; Gheorghe Bonyhay; Yolène Huten; Jean-François Oury; Edith Vuillard; Catherine Garel; Patricia Terdjman; Alain Verloes; Anne-Lise Delezoide

• Book ID: 101451892
• Publisher: John Wiley and Sons
• Year: 2005
• Tongue: English
• Weight: 278 KB
• Volume: 138A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.30914

✦ Synopsis

We report a 29-week male fetus with healthy consanguineous parents. He showed a severe sclerosing bone disorder affecting all skeletal elements, resulting in insufficient modeling, generalized densification, and fragility of the skeleton. This skeletal dysplasia was associated with an abnormal craniofacial development (hypertelorism, severe microretrognathia, cleft palate, absent epiglottis, reduced number, and mineralization of teeth buds) and abnormal terminal phalanges. Neuropathologic examination showed bilateral fronto-parietal cerebral polymicrogyria. This syndrome appears to represent a new variant of congenital sclerotic bone disorder of unknown origin. Autosomal recessive inheritance is possible.