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A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria
Author(s) -
Titomanlio Luigi,
Baumann Clarisse,
Bonyhay Gheorghe,
Huten Yolène,
Oury JeanFrançois,
Vuillard Edith,
Garel Catherine,
Terdjman Patricia,
Verloes Alain,
Delezoide AnneLise
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30914
Subject(s) - polymicrogyria , hypertelorism , craniofacial , medicine , anatomy , consanguinity , brachydactyly , craniofacial abnormality , osteosclerosis , pathology , dwarfism , hyperostosis , congenital disorder , osteochondrodysplasia , dysplasia , biology , pediatrics , genetics , surgery , magnetic resonance imaging , short stature , radiology , psychiatry , gene
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. © 2005 Wiley‐Liss, Inc.