title: A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability.
abstract: 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.
authors.affiliation: IRCCS-CSS San Giovanni Rotondo and CSS-Mendel Rome, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Mingarelli
authors.forename: Daniela
authors.initials: D
authors.lastname: Zuccarello
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: 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