Format

Send to

Choose Destination
See comment in PubMed Commons below
Am J Med Genet. 1995 Jul 3;57(3):403-9.

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.

Author information

1
Department of Pediatrics, Pennsylvania State University Children's Hospital, Hershey, USA.

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 have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome.

PMID:
7545868
DOI:
10.1002/ajmg.1320570308
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center