Author/Authors :
Claudio Celentano، نويسنده , , Raffaella Zannolli، نويسنده , , Sabrina Buoni، نويسنده , , Sergio Domizio، نويسنده , , Giuseppe Sabatino، نويسنده , , Cesare Colosimo، نويسنده , , Anita Saponari، نويسنده , , Rosanna Pallotta، نويسنده , , James A. Swift، نويسنده , , Sigi Rotmensch، نويسنده , , Marco Liberati، نويسنده ,
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.
