title: Classical lissencephaly associated with dolichocephaly, hair and nail defect.
abstract: We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid characterization of the phenotype at birth. Because previously reported cases were not associated with the features described in our proband, they might represent a newly identified condition.
authors.affiliation: Department of Medicine and Aging, Section of Obstetric and Gynecology, Nuovo Policlinico, University 'G. D'Annunzio', Medical School, University of Chieti, Chieti, Italy. ccelen@tin.it
authors.forename: Claudio
authors.initials: C
authors.lastname: Celentano
authors.forename: Raffaella
authors.initials: R
authors.lastname: Zannolli
authors.forename: Sabrina
authors.initials: S
authors.lastname: Buoni
authors.forename: Sergio
authors.initials: S
authors.lastname: Domizio
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Sabatino
authors.forename: Cesare
authors.initials: C
authors.lastname: Colosimo
authors.forename: Anita
authors.initials: A
authors.lastname: Saponari
authors.forename: Rosanna
authors.initials: R
authors.lastname: Pallotta
authors.forename: James A
authors.initials: JA
authors.lastname: Swift
authors.forename: Sigi
authors.initials: S
authors.lastname: Rotmensch
authors.forename: Marco
authors.initials: M
authors.lastname: Liberati
mesh_terms: D001927:Brain Diseases / Q000151:congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006201:Hair Diseases / Q000151:congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009260:Nail Diseases / Q000151:congenital / Q000473:pathology*; D010641:Phenotype; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal