Classical lissencephaly associated with dolichocephaly, hair and nail defect.
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.
Celentano
Claudio
C
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
Zannolli
Raffaella
R
Buoni
Sabrina
S
Domizio
Sergio
S
Sabatino
Giuseppe
G
Colosimo
Cesare
C
Saponari
Anita
A
Pallotta
Rosanna
R
Swift
James A
JA
Rotmensch
Sigi
S
Liberati
Marco
M
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