Ocular manifestations in a family with brachio-oculo-facial syndrome

Rosanna Martens; Linda A.Cernichiaro Espinosa; Supalert Prakhunhungsit; Audina M. Berrocal

doi:10.1016/j.jaapos.2019.01.007

Ocular manifestations in a family with brachio-oculo-facial syndrome

Rosanna Martens, Linda A.Cernichiaro Espinosa, Supalert Prakhunhungsit, Audina M. Berrocal

Ophthalmology

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

1 Scopus citations

Abstract

We report 3 siblings with brachio-oculo-facial syndrome (BOFS) who present with the predominant ocular phenotype. This syndrome has rarely been reported in multiple first-degree relatives.

Original language	English (US)
Pages (from-to)	180-182
Number of pages	3
Journal	Journal of AAPOS
Volume	23
Issue number	3
DOIs	https://doi.org/10.1016/j.jaapos.2019.01.007
State	Published - Jun 2019

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology

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title = "Ocular manifestations in a family with brachio-oculo-facial syndrome",

abstract = "We report 3 siblings with brachio-oculo-facial syndrome (BOFS) who present with the predominant ocular phenotype. This syndrome has rarely been reported in multiple first-degree relatives.",

author = "Rosanna Martens and Espinosa, {Linda A.Cernichiaro} and Supalert Prakhunhungsit and Berrocal, {Audina M.}",

year = "2019",

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AU - Espinosa, Linda A.Cernichiaro

AU - Prakhunhungsit, Supalert

AU - Berrocal, Audina M.

PY - 2019/6

Y1 - 2019/6

N2 - We report 3 siblings with brachio-oculo-facial syndrome (BOFS) who present with the predominant ocular phenotype. This syndrome has rarely been reported in multiple first-degree relatives.

AB - We report 3 siblings with brachio-oculo-facial syndrome (BOFS) who present with the predominant ocular phenotype. This syndrome has rarely been reported in multiple first-degree relatives.

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Ocular manifestations in a family with brachio-oculo-facial syndrome

Abstract

ASJC Scopus subject areas

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