Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

Horseshoe kidney

A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.


Total: 3

                      


(per page)
PMID (PMCID)
18805374
MALE Child
Neurofibromatosis type 1 with intracranial hemorrhage and horseshoe kidney.
Jat KR, Marwaha RK, Panigrahi I, Gupta V.
Pediatr Neurol. 2008;39(4):295-7.
Neurofibromatosis type 1 with intracranial hemorrhage and horseshoe kidney.
15150783
MALE Adult
Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney.
Oktenli C, Gul D, Deveci MS, Saglam M, Upadhyaya M, Thompson P, Consoli C, Kocar IH, Pilarski R, Zhou XP, Eng C.
Am J Med Genet A. 2004;127A(3):298-301.
We report a case that draws attention to a hitherto undescribed association of neurofibromatosis type 1 (NF1) with juvenile polyp, congenital intrahepatic portosystemic venous shunt, multiple subcutaneous lipomas, and horseshoe kidney.
15150783
MALE Adult
Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney.
Oktenli C, Gul D, Deveci MS, Saglam M, Upadhyaya M, Thompson P, Consoli C, Kocar IH, Pilarski R, Zhou XP, Eng C.
Am J Med Genet A. 2004;127A(3):298-301.
Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney.