TY - JOUR
T1 - Marshall-Smith syndrome and septo-optic dysplasia
T2 - An unreported association
AU - Travan, Laura
AU - Oretti, Chiara
AU - Zennaro, Floriana
AU - Demarini, Sergio
PY - 2008/8/15
Y1 - 2008/8/15
N2 - Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. We describe a female newborn who, in addition to demonstrating many of the well described features of Marshall-Smith syndrome, had septo-optic dysplasia.
AB - Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. We describe a female newborn who, in addition to demonstrating many of the well described features of Marshall-Smith syndrome, had septo-optic dysplasia.
KW - Marshall-Smith syndrome
KW - Septo-optic dysplasia
UR - http://www.scopus.com/inward/record.url?scp=49449108221&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=49449108221&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.32430
DO - 10.1002/ajmg.a.32430
M3 - Article
C2 - 18627063
AN - SCOPUS:49449108221
VL - 146
SP - 2138
EP - 2140
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 16
ER -