1/3. 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.- - - - - - - - - - ranking = 1keywords = acrocallosal syndrome, acrocallosal (Clic here for more details about this article) |
2/3. acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3.Report on the child of normal unrelated parents presenting the typical features of acrocallosal syndrome (craniofacial dysmorphy, mental deficiency, convulsive disorder, agenesis of corpus callosum, preaxial polydactyly "hallux duplex" of both feet, and in addition diabetes insipidus) in which a mirror duplication of nearly the entire short arm of chromosome 12 was discovered. Since the symptomatology of trisomy and tetrasomy 12p shows some overlap with acrocallosal syndrome a common origin of the monogenic disorder and the chromosomal phenotypes is discussed.- - - - - - - - - - ranking = 1.2214532871972keywords = acrocallosal syndrome, acrocallosal (Clic here for more details about this article) |
3/3. Duplication of hands and feet, multiple joint dislocations, absence of corpus callosum and hypsarrhythmia: acrocallosal syndrome?We describe a 14-month-old female infant with absence of corpus callosum, atrophy of optic nerve, peculiar face, complex polydactyly, multiple joint abnormalities, and femoral shortness. The similarities to and differences from previously reported cases of this kind suggest that our patient has a new type of acrocallosal syndrome.- - - - - - - - - - ranking = 5keywords = acrocallosal syndrome, acrocallosal (Clic here for more details about this article) |