PREVIOUSLY APPARENTLY UNDESCRIBED SYNDROME - SHALLOW ORBITS, PTOSIS, COLOBOMA, TRIGONOCEPHALY, GYRAL MALFORMATIONS, AND MENTAL AND GROWTH-RETARDATION

Authors
RAMER JC LIN AE DOBYNS WB WINTER R AYME S PALLOTTA R LADDA RL
Citation
Jc. Ramer et al., PREVIOUSLY APPARENTLY UNDESCRIBED SYNDROME - SHALLOW ORBITS, PTOSIS, COLOBOMA, TRIGONOCEPHALY, GYRAL MALFORMATIONS, AND MENTAL AND GROWTH-RETARDATION, American journal of medical genetics, 57(3), 1995, pp. 403-409
Citations number
14
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
57
Issue
3
Year of publication
1995
Pages
403 - 409
Database
ISI
SICI code
0148-7299(1995)57:3<403:PAUS-S>2.0.ZU;2-9
Abstract
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 hav e had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome. (C) 19 95 Wiley-Liss, Inc.