A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton.
A syndrome of multiple anomalies associated with growth failure and delayed development is described. The facies appear distinctive with globular head, prominence of the eyes, hypertelorism, cleft palate, micrognathia, and abnormal pinnae. Other features include vertebral and costal anomalies, cardiac defects, and a peculiar malformation of the hands. At least five other cases of this condition, all occurring in males, may be found in medical reports. The finding of incomplete expression in three maternal relatives of our patient provides evidence for a genetic cause.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome