A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria.
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.
Titomanlio
Luigi
L
Clinical Genetics Unit, Robert Debré Hospital, Paris, France.
Baumann
Clarisse
C
Bonyhay
Gheorghe
G
Huten
Yolène
Y
Oury
Jean-François
JF
Vuillard
Edith
E
Garel
Catherine
C
Terdjman
Patricia
P
Verloes
Alain
A
Delezoide
Anne-Lise
AL
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