Syndrome identification #149: Trigonocephaly, pachygyria, retinal coloboma, and cardiac defect: A distinct syndrome

Jeanette Ramer; M. J. Mascari; E. Manders; R. L. Ladda

Syndrome identification #149: Trigonocephaly, pachygyria, retinal coloboma, and cardiac defect: A distinct syndrome

Jeanette Ramer
, M. J. Mascari
, E. Manders
, R. L. Ladda

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

Abstract

We report a boy with an apparently unique cluster of congenital anomalies that included trigonocephaly, pachygyria, flat nasal root, up-slanting palpebral fissures, retinal coloboma, ventricular septal defect, and subtle skeletal peculiarities. The phenotypic features overlap those of Opitz trigonocephaly and, to a lesser degree, the CHARGE association, but are distinct from either of these disorders.

Original language	English (US)
Pages (from-to)	15-20
Number of pages	6
Journal	Dysmorphology and Clinical Genetics
Volume	6
Issue number	1
State	Published - 1992

All Science Journal Classification (ASJC) codes

Anatomy
Genetics(clinical)

Cite this

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title = "Syndrome identification \#149: Trigonocephaly, pachygyria, retinal coloboma, and cardiac defect: A distinct syndrome",

abstract = "We report a boy with an apparently unique cluster of congenital anomalies that included trigonocephaly, pachygyria, flat nasal root, up-slanting palpebral fissures, retinal coloboma, ventricular septal defect, and subtle skeletal peculiarities. The phenotypic features overlap those of Opitz trigonocephaly and, to a lesser degree, the CHARGE association, but are distinct from either of these disorders.",

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T2 - Trigonocephaly, pachygyria, retinal coloboma, and cardiac defect: A distinct syndrome

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AU - Mascari, M. J.

AU - Manders, E.

AU - Ladda, R. L.

PY - 1992

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N2 - We report a boy with an apparently unique cluster of congenital anomalies that included trigonocephaly, pachygyria, flat nasal root, up-slanting palpebral fissures, retinal coloboma, ventricular septal defect, and subtle skeletal peculiarities. The phenotypic features overlap those of Opitz trigonocephaly and, to a lesser degree, the CHARGE association, but are distinct from either of these disorders.

AB - We report a boy with an apparently unique cluster of congenital anomalies that included trigonocephaly, pachygyria, flat nasal root, up-slanting palpebral fissures, retinal coloboma, ventricular septal defect, and subtle skeletal peculiarities. The phenotypic features overlap those of Opitz trigonocephaly and, to a lesser degree, the CHARGE association, but are distinct from either of these disorders.

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UR - https://www.scopus.com/pages/publications/0026526197#tab=citedBy

M3 - Article

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JO - Dysmorphology and Clinical Genetics

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Syndrome identification #149: Trigonocephaly, pachygyria, retinal coloboma, and cardiac defect: A distinct syndrome

Abstract

All Science Journal Classification (ASJC) codes

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