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Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient
Author(s) -
Carvalho Daniel Rocha de,
Rossi Natalia Freitas,
Schellini Silvana,
MorettiFerreira Danilo,
RichieriCosta Antônio
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32428
Subject(s) - medicine , psychology
We report on a 4‐year‐old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach–Rott syndrome (SRS) are the same condition. © 2008 Wiley‐Liss, Inc.
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