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A new observation of acro‐cardio‐facial syndrome substantiates interindividual clinical variability
Author(s) -
Mingarelli Rita,
Zuccarello Daniela,
Digilio Maria Cristina,
Dallapiccola Bruno
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.30770
Subject(s) - ectrodactyly , medicine , sex organ , anatomy , dermatology , genetics , biology , ectodermal dysplasia
We report on a baby presenting with ectrodactyly, heart defects, and mild facial dysmorphisms, an association recognized as acro‐cardio‐facial syndrome (ACFS). Based on the first three observations, the acronym CCGE, cleft palate, cardiac defect, genital anomalies, and ectrodactyly had been proposed to embrace the most consistent features of this syndrome. A subsequent report and the present patient point to an obvious interindividual and intrafamilial variability of this autosomal recessive disorder in which ectrodactyly was the sole characteristic shared by all affected individuals. © 2005 Wiley‐Liss, Inc.