title: Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?
abstract: Here we describe the clinical, histopathological and molecular studies of a female proband that died at 2 months of age in the context of a syndromic polymicrogyria. There was no significant family history. Clinical and radiological features included poor contact, cleft palate, facial dysmorphic features with frontal bossing, down-slanting and small palpebral fissures, inferior epicanthic folds, low-set and malformed ears, flat nose, retrognathism and short neck, minor limb anomalies, polymicrogyria that appear more severe in the perisylvian regions and cerebellar vermis hypoplasia. Autopsy findings revealed a patent foramen ovale with persistent left superior vena cava, left renal hypoplasia and microphthalmia. This description does not fit with any of the known syndromes with polymicrogyria and cytogenetic analyses including standard and high resolution chromosome analyses, telomeric FISH studies and array-CGH were normal. Consequently, the reported features in this child are unique and are likely to represent a new syndrome.
authors.affiliation: Département de Génétique, Faculté de Médecine et CHU de Dijon, Dijon, France.
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Mosca
authors.forename: Nicole
authors.initials: N
authors.lastname: Laurent
authors.forename: Laurent
authors.initials: L
authors.lastname: Guibaud
authors.forename: Patrick
authors.initials: P
authors.lastname: Callier
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: Francine
authors.initials: F
authors.lastname: Mugneret
authors.forename: Frédéric
authors.initials: F
authors.lastname: Huet
authors.forename: Marianne
authors.initials: M
authors.lastname: Grimaldi
authors.forename: Jean-Bernard
authors.initials: JB
authors.lastname: Gouyon
authors.forename: Dominique
authors.initials: D
authors.lastname: Sandre
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
mesh_terms: D002531:Cerebellum / Q000002:abnormalities*; D002972:Cleft Palate / Q000473:pathology*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome