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Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): A second family
Author(s) -
MartínezFrías María Luisa,
Toral Joaquín Fernández,
LópezGrondona Fermina,
Mendioroz Jacobo,
Bermejo Eva
Publication year - 2005
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.30875
Subject(s) - short stature , palpebral fissure , brachydactyly , eyelid , ptosis , medicine , anatomy , pediatrics , surgery
A second family with the condition first described by Frías et al. in 1975 is presented. Those authors examined a mother and her son affected with short stature, facial anomalies (epicanthic folds, downward palpebral fissures, hyperthelorism, and eyelid ptosis), cup‐shaped and posteriorly rotated ears, hand and foot defects, and delayed bone age. In the family we are presenting here, a girl, her mother, the mother's brother, and the propositus' maternal grandmother, were affected. This supports autosomal dominant inheritance, as proposed by (Frías et al. [1975] BDOAS 11:30–33), although with variable expressivity. © 2005 Wiley‐Liss, Inc.