Agenesis of the corpus callosum, camptodactyly and obesity.
We report a 16-year-old girl with agenesis of the corpus callosum, congenital heart disease (ventricular septal defect and abnormal venous return), 5th digit camptodactyly and obesity, born to first cousin Italian parents. Although this child shares features with acrocallosal syndrome and Camera-Marugo-Cohen syndrome, we think that this combination of anomalies allows the delineation of a new MCA/MR syndrome, possibly recessively inherited.
Verloes
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Wallonia Centre for Human Genetics, Liège University, CHU Sart Tilman, Belgium. Alain.Verloes@chu.ulg.ac.be
Lesenfants
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D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006345:Heart Septal Defects, Ventricular / Q000473:pathology; D006801:Humans; D009765:Obesity / Q000473:pathology*