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Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype
Author(s) -
Briggs T.A.,
Wolf N.I.,
D'Arrigo S.,
Ebinger F.,
Harting I.,
Dobyns W.B.,
Livingston J.H.,
Rice G.I.,
Crooks D.,
RowlandHill C.A.,
Squier W.,
Stoodley N.,
Pilz D.T.,
Crow Y.J.
Publication year - 2008
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.32614
Subject(s) - polymicrogyria , microcephaly , calcification , context (archaeology) , consanguinity , phenotype , sibling , medicine , pathology , biology , epilepsy , pediatrics , genetics , psychology , neuroscience , developmental psychology , gene , paleontology
The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients—two male–female sibling pairs, one pair born to consanguineous parents, and an unrelated female—with a distinct pattern of band‐like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post‐natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable “pseudo‐TORCH” phenotype inherited as an autosomal recessive trait. © 2008 Wiley‐Liss, Inc.