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

J. C. Ramer; A. E. Lin; W. B. Dobyns; R. Winter; S. Ayme; R. Pallotta; R. L. Ladda

doi:10.1002/ajmg.1320570308

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

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

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37 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 language	English (US)
Pages (from-to)	403-409
Number of pages	7
Journal	American Journal of Medical Genetics
Volume	57
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1320570308
State	Published - 1995
Externally published	Yes

Keywords

chromosome 2
lissencephaly
mental retardation
multiple anomaly syndrome
pachygyria
trigonocephaly

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

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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year = "1995",

doi = "10.1002/ajmg.1320570308",

language = "English (US)",

volume = "57",

pages = "403--409",

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AU - Ramer, J. C.

AU - Lin, A. E.

AU - Dobyns, W. B.

AU - Winter, R.

AU - Ayme, S.

AU - Pallotta, R.

AU - Ladda, R. L.

PY - 1995

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N2 - 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.

AB - 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.

KW - chromosome 2

KW - lissencephaly

KW - mental retardation

KW - multiple anomaly syndrome

KW - pachygyria

KW - trigonocephaly

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JF - American Journal of Medical Genetics

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ER -

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

Abstract

Keywords

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