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| | Romanian Journal of Hand and Reconstructive Microsurgery |
 | | McIntosh et al in 1999 diagnosed the syndrome in a fetus using DNA markers to detect the LMX1B mutation, and the pregnancy was terminated at 15 weeks, but molecular diagnosis cannot predict the presence of kidney disease or its severity. |
 | | Differential diagnosis will be done from other syndromes where antecubital pterygium is a feature: Escobar syndrome (Multiple Pterygium Syndrome) where pterygia of neck, axillae, popliteal, and intercrural areas, camptodactyly or syndactyly, cryptorchidism, scoliosis or kyphosis, micrognathia, cleft palate, short stature, and absent or dysplastic patella are other common abnormalities. |
 | | Aschner B: A typical hereditary syndrome: dystrophy of the nails, congenital defect of the patella and congenital defect of the head of radius, J.A.M.A. Campeau E, Watkins D, Rouleau GA, Babul R, Buchanan JA et al: Linkage analysis of the nail patella-syndrome, Am J Hum Gen 56: 243—247, 1995. |
| www.rjhrm.ro /dump_articol.php?id_numar=6&id_articol=42&limba=EN (1731 words) |
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