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

Jeanette Ramer, A. E. Lin, W. B. Dobyns, R. Winter, S. Ayme, R. Pallotta, Roger Ladda

Research output: Contribution to journalArticlepeer-review

36 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)403-409
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume57
Issue number3
DOIs
StatePublished - Jul 3 1995

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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