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

Research output: Contribution to journal › Article › peer-review

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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10.1002/ajmg.1320570308

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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.",

keywords = "chromosome 2, lissencephaly, mental retardation, multiple anomaly syndrome, pachygyria, trigonocephaly",

author = "Ramer, {J. C.} and Lin, {A. E.} and Dobyns, {W. B.} and R. Winter and S. Ayme and R. Pallotta and Ladda, {R. L.}",

year = "1995",

doi = "10.1002/ajmg.1320570308",

language = "English (US)",

volume = "57",

pages = "403--409",

journal = "American Journal of Medical Genetics",

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T2 - Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation

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

Y1 - 1995

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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DO - 10.1002/ajmg.1320570308

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AN - SCOPUS:0029072773

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VL - 57

SP - 403

EP - 409

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 3

ER -

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

Abstract

Keywords

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