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Richieri‐costa and Pereira syndrome: Severe phenotype
Author(s) -
Raskin Salmo,
Souza Marcela,
Medeiros Mariana C.,
Manfron Mayra,
Chong e Silva Debora C.
Publication year - 2013
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.35989
Subject(s) - epiglottis , larynx , short stature , anatomy , phenotype , congenital malformations , medicine , biology , pediatrics , genetics , pregnancy , gene
Richieri‐Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4‐month‐old boy with the most severe phenotype yet reported. © 2013 Wiley Periodicals, Inc.