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

作者信息

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

机构信息

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

出版信息

Am J Med Genet. 1995 Jul 3;57(3):403-9. doi: 10.1002/ajmg.1320570308.

DOI:10.1002/ajmg.1320570308
PMID:7545868
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.

摘要

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Am J Med Genet. 1995 Jul 3;57(3):403-9. doi: 10.1002/ajmg.1320570308.
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