A case of craniomandibular dermatodysostosis associated with focal glomerulosclerosis

New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys.

Young Lw, Radebaugh Jf, PHLIP RUBIN et al. · PubMed · 1971 · 72 citations

Medicine, Dermatology, Pediatrics +15

Renal disease in nail-patella syndrome: Clinical and morphologic studies

John R. Hoyer, Alfred F. Michael, Robert L. Vernier et al. · Kidney International · 1972 · 70 citations · Full text

Medicine, Orthopaedic Surgery, Orthopedic Surgery +13

Association of spondylo-epiphyseal dysplasia with nephrotic syndrome

J. H. H. Ehrich, G. Offner, E Schirg et al. · Pediatric Nephrology · 1990 · 35 citations

Medicine, Nephrology, Pathology +13

Another Italian family with mandibuloacral dysplasia: Why does it seem more frequent in Italy?

Romano Tenconi, F Miotti, Giuliano Audino et al. · American Journal of Medical Genetics · 1986 · 33 citations

Life Sciences, Genetics, Molecular Genetics +17

Essential Osteolysis with Nephropathy

Joseph S. Torg, HOWARD H. STEEL · Journal of Bone and Joint Surgery · 1968 · 29 citations

Medicine, Nephrology, Pathology +10