A new case of oculoectodermal syndrome

Thomas K M Lee, Royce L C Johnson, Ian M. MacDonald, Alfons Krol, J. Stephen Bamforth

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

An 11-month-old infant girl presented with right-sided features of aplasia cutis congenita of the scalp, unilateral epibulbar dermoids, eccentric pupil, coloboma of the right upper eyelid, and depigmentation of the fundus surrounding the right optic nerve. These findings were similar to the oculoectodermal syndrome reported by other clinicians and researchers.

Original languageEnglish (US)
Pages (from-to)131-133
Number of pages3
JournalOphthalmic Genetics
Volume26
Issue number3
DOIs
StatePublished - Sep 2005

Fingerprint

Coloboma
Ectodermal Dysplasia
Dermoid Cyst
Eyelids
Pupil
Optic Nerve
Research Personnel
Aplasia Cutis Congenita with Epibulbar Dermoids
Adams Oliver syndrome

Keywords

  • Aplasia cutis congenita
  • Coloboma
  • Oculoectodermal syndrome

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this

Lee, T. K. M., Johnson, R. L. C., MacDonald, I. M., Krol, A., & Bamforth, J. S. (2005). A new case of oculoectodermal syndrome. Ophthalmic Genetics, 26(3), 131-133. https://doi.org/10.1080/13816810500228811

A new case of oculoectodermal syndrome. / Lee, Thomas K M; Johnson, Royce L C; MacDonald, Ian M.; Krol, Alfons; Bamforth, J. Stephen.

In: Ophthalmic Genetics, Vol. 26, No. 3, 09.2005, p. 131-133.

Research output: Contribution to journalArticle

Lee, TKM, Johnson, RLC, MacDonald, IM, Krol, A & Bamforth, JS 2005, 'A new case of oculoectodermal syndrome', Ophthalmic Genetics, vol. 26, no. 3, pp. 131-133. https://doi.org/10.1080/13816810500228811
Lee TKM, Johnson RLC, MacDonald IM, Krol A, Bamforth JS. A new case of oculoectodermal syndrome. Ophthalmic Genetics. 2005 Sep;26(3):131-133. https://doi.org/10.1080/13816810500228811
Lee, Thomas K M ; Johnson, Royce L C ; MacDonald, Ian M. ; Krol, Alfons ; Bamforth, J. Stephen. / A new case of oculoectodermal syndrome. In: Ophthalmic Genetics. 2005 ; Vol. 26, No. 3. pp. 131-133.
@article{d476e5b4f2d84e0c926968173a1607c6,
title = "A new case of oculoectodermal syndrome",
abstract = "An 11-month-old infant girl presented with right-sided features of aplasia cutis congenita of the scalp, unilateral epibulbar dermoids, eccentric pupil, coloboma of the right upper eyelid, and depigmentation of the fundus surrounding the right optic nerve. These findings were similar to the oculoectodermal syndrome reported by other clinicians and researchers.",
keywords = "Aplasia cutis congenita, Coloboma, Oculoectodermal syndrome",
author = "Lee, {Thomas K M} and Johnson, {Royce L C} and MacDonald, {Ian M.} and Alfons Krol and Bamforth, {J. Stephen}",
year = "2005",
month = "9",
doi = "10.1080/13816810500228811",
language = "English (US)",
volume = "26",
pages = "131--133",
journal = "Ophthalmic Paediatrics and Genetics",
issn = "0167-6784",
publisher = "Aeolus Press",
number = "3",

}

TY - JOUR

T1 - A new case of oculoectodermal syndrome

AU - Lee, Thomas K M

AU - Johnson, Royce L C

AU - MacDonald, Ian M.

AU - Krol, Alfons

AU - Bamforth, J. Stephen

PY - 2005/9

Y1 - 2005/9

N2 - An 11-month-old infant girl presented with right-sided features of aplasia cutis congenita of the scalp, unilateral epibulbar dermoids, eccentric pupil, coloboma of the right upper eyelid, and depigmentation of the fundus surrounding the right optic nerve. These findings were similar to the oculoectodermal syndrome reported by other clinicians and researchers.

AB - An 11-month-old infant girl presented with right-sided features of aplasia cutis congenita of the scalp, unilateral epibulbar dermoids, eccentric pupil, coloboma of the right upper eyelid, and depigmentation of the fundus surrounding the right optic nerve. These findings were similar to the oculoectodermal syndrome reported by other clinicians and researchers.

KW - Aplasia cutis congenita

KW - Coloboma

KW - Oculoectodermal syndrome

UR - http://www.scopus.com/inward/record.url?scp=32044471538&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=32044471538&partnerID=8YFLogxK

U2 - 10.1080/13816810500228811

DO - 10.1080/13816810500228811

M3 - Article

VL - 26

SP - 131

EP - 133

JO - Ophthalmic Paediatrics and Genetics

JF - Ophthalmic Paediatrics and Genetics

SN - 0167-6784

IS - 3

ER -