title: A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria.
abstract: 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.
authors.affiliation: Clinical Genetics Unit, Robert Debré Hospital, Paris, France.
authors.forename: Luigi
authors.initials: L
authors.lastname: Titomanlio
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Gheorghe
authors.initials: G
authors.lastname: Bonyhay
authors.forename: Yolène
authors.initials: Y
authors.lastname: Huten
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Oury
authors.forename: Edith
authors.initials: E
authors.lastname: Vuillard
authors.forename: Catherine
authors.initials: C
authors.lastname: Garel
authors.forename: Patricia
authors.initials: P
authors.lastname: Terdjman
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Anne-Lise
authors.initials: AL
authors.lastname: Delezoide
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000025:Abortion, Eugenic; D002540:Cerebral Cortex / Q000002:abnormalities*; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000473:pathology; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D008297:Male; D010026:Osteosclerosis / Q000151:congenital / Q000473:pathology*; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal