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

All Science Journal Classification (ASJC) codes

Genetics(clinical)

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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.",

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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T1 - Previously apparently undescribed syndrome

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.

UR - https://www.scopus.com/pages/publications/0029072773

UR - https://www.scopus.com/pages/publications/0029072773#tab=citedBy

U2 - 10.1002/ajmg.1320570308

DO - 10.1002/ajmg.1320570308

M3 - Article

C2 - 7545868

AN - SCOPUS:0029072773

SN - 0148-7299

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

All Science Journal Classification (ASJC) codes

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