Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome.
Ramer
J C
JC
Department of Pediatrics, Pennsylvania State University Children's Hospital, Hershey, USA.
Lin
A E
AE
Dobyns
W B
WB
Winter
R
R
Aymé
S
S
Pallotta
R
R
Ladda
R L
RL
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001763:Blepharoptosis / Q000235:genetics; D002648:Child; D002889:Chromosomes, Human, Pair 2; D003103:Coloboma / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities; D006179:Gyrus Cinguli / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009915:Orbit / Q000002:abnormalities; D013577:Syndrome