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Review
. 1995 Jul 3;57(3):403-9.
doi: 10.1002/ajmg.1320570308.

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

J C Ramer  1 , A E Lin, W B Dobyns, R Winter, S Aymé, R Pallotta, R L Ladda
Affiliations
Review

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

J C Ramer et al. Am J Med Genet. .

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.

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