A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability.
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.
Mingarelli
Rita
R
IRCCS-CSS San Giovanni Rotondo and CSS-Mendel Rome, Italy.
Zuccarello
Daniela
D
Digilio
Maria Cristina
MC
Dallapiccola
Bruno
B
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010159:Palate / Q000002:abnormalities; D013576:Syndactyly / Q000473:pathology*; D013577:Syndrome