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

Department of Ophthalmology

Bascom Palmer Eye Institute

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

2 Citations (Scopus)

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
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
Publication status	Published - Jun 2019

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@article{f82842ab4460409ba35cc06609fe3c69,

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.\}",

note = "Publisher Copyright: {\textcopyright} 2019 American Association for Pediatric Ophthalmology and Strabismus",

year = "2019",

month = jun,

doi = "10.1016/j.jaapos.2019.01.007",

language = "English",

volume = "23",

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journal = "Journal of AAPOS",

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T1 - Ocular manifestations in a family with brachio-oculo-facial syndrome

AU - Martens, Rosanna

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.

UR - https://www.scopus.com/pages/publications/85066997874

U2 - 10.1016/j.jaapos.2019.01.007

DO - 10.1016/j.jaapos.2019.01.007

M3 - Article

C2 - 30822509

AN - SCOPUS:85066997874

SN - 1091-8531

VL - 23

SP - 180

EP - 182

JO - Journal of AAPOS

JF - Journal of AAPOS

IS - 3

ER -

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

Abstract

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