1/45. nail-patella syndrome: an incidental finding from abdominal discomfort.An otherwise healthy 18-year-old woman had abdominal discomfort. physical examination and laboratory studies were unremarkable, with the exception of nail dystrophy of the ulnar digits. An abdominal plain film revealed bilateral posterior iliac horns, pathognomonic of nail-patella syndrome. Additional radiographs showed hypoplastic patellas bilaterally. While glomerulonephritis occurs in 30% of patients with nail-patella syndrome, there was no evidence of renal involvement.- - - - - - - - - - ranking = 1keywords = nail-patella syndrome, nail-patella, horn (Clic here for more details about this article) |
2/45. nail-patella syndrome and IgA nephropathy in a Chinese woman.nail-patella syndrome (NPS), also known as hereditary onycho-osteodysplasia, is an autosomal dominant pleiotropic disorder characterized by nailbed dysplasia or hypoplasia, absent or hypoplastic patellae, iliac horns and deformation or luxation of the radial head. Nephropathy is a known serious complication associated with NPS. In this report, we describe an adult Chinese woman with the clinical and radiological features of NPS who presented with the nephrotic syndrome. Renal biopsy disclosed focal segmental glomerulosclerosis on light microscopy, while immunofluorescence revealed predominant staining for IgA in the glomerular mesangium and along some capillary walls. Ultrastructural study confirmed the presence of paramesangial deposits as well as subendothelial collagen fibrils in the glomeruli. The histological findings were those of combined NPS and IgA disease, an association which has rarely been described.- - - - - - - - - - ranking = 1.4706111080049E-7keywords = horn (Clic here for more details about this article) |
3/45. Surgical management of congenital permanent dislocation of the patella in nail patella syndrome by Stanisavljevic procedure.We report a patient with nail patella syndrome associated with congenital permanent dislocation of the patella successfully operated on using a modified Stanisavljevic method. The patient, a 26-year-old woman, complained of inability to completely extend her right knee joint. She had occasionally experienced the "giving way" phenomenon since childhood, but she had not received any treatment since birth. physical examination showed that all fingernails were deformed, with longitudinal striations, while the lunules were of an abnormal triangular shape or were missing. Both patellae were palpably hypoplastic, with the right patella dislocated laterally, and the knee had an extension lag of 90 degrees. thigh and leg muscle were slightly underdeveloped, but quadriceps muscle contraction was good. Several radiographs were taken and they showed bilateral iliac horns and hypoplasia of the bilateral humero-radial joints and of both patellae, and complete dislocation of the right patella. We employed the Stanisavljevic procedure for the reduction of the patella, with Z-lengthening of the rectus femoris and medial translocation of the tibial tuberosity. Four years after the operation, a 30-degree extension lag still exists in the right knee, but the treatment resulted in stable alignment of the quadriceps mechanism, and notably improved gait appearance.- - - - - - - - - - ranking = 1.4706111080049E-7keywords = horn (Clic here for more details about this article) |
4/45. The association of Buschke-Ollendorf syndrome and nail-patella syndrome.Buschke-Ollendorf syndrome and nail-patella syndrome are both rare connective tissue disorders inherited in an autosomal dominant pattern and characterized by cutaneous and bone lesions. We describe a 3-year-old boy and his family who showed clinical features of both Buschke-Ollendorf syndrome and nail-patella syndrome. To our knowledge, this association has not been reported previously, suggesting that these two connective tissue disorders may share the same gene location with different mutations or involve different mutated genes that share downstream segments of their signaling pathways. Furthermore, this young patient is also affected by a chronic idiopathic neutropenia usually not observed in Buschke-Ollendorf syndrome or nail-patella syndrome.- - - - - - - - - - ranking = 3.4999994852861keywords = nail-patella syndrome, nail-patella (Clic here for more details about this article) |
5/45. The course of pregnancy in a patient with nail-patella syndrome.INTRODUCTION: The nail-patella syndrome is a rare autosomal dominant condition with high penetrance. pregnancy in such a patient is rare and we believe this to be the first report of a live birth occurring in a patient with nail-patella syndrome. CLINICAL PICTURE: A 25-year-old patient presented in her first pregnancy with nephrotic syndrome associated with characteristic bone abnormalities and nail dysplasia and was later diagnosed to have nail-patella syndrome. In her second pregnancy, the course of her pregnancy was complicated by further deterioration of renal function with superimposed pre-eclampsia resulting in early delivery at 28 weeks. CONCLUSION: Such pregnancies should be regarded as high risk and managed jointly with the renal physician in a tertiary care centre to ensure an optimal outcome to the mother and baby.- - - - - - - - - - ranking = 3.4999994852861keywords = nail-patella syndrome, nail-patella (Clic here for more details about this article) |
6/45. 48, XXXY klinefelter syndrome and nail-patella syndrome in the same child.A patient is described who in addition to having the 48, XXXY klinefelter syndrome has the autosomal dominant nail-patella syndrome, inherited through his mother from the grandfather. Clinical signs of both syndromes were found. Chromosomal investigation with BUDR incorporation and acridine orange staining showed that one x chromosome stained intensively, while the other X chromosomes were elongated and weakly stained. Difference in degree of stretching of the supernumerary chromosomes was noted. The occurrence of the two rare syndromes in the same patient is assumed to be fortuitous.- - - - - - - - - - ranking = 2.4999996323472keywords = nail-patella syndrome, nail-patella (Clic here for more details about this article) |
7/45. nail-patella syndrome with renal involvement and antecubital pterygia.nail-patella syndrome (NPS) is a rare, autosomal-dominant hereditary disorder characterized by nail dysplasia and multiple osseous abnormalities. Some patients may develop renal function impairment and even end-stage renal disease. We treated a 42-year-old female patient with proteinuria who presented with a web-like structure over the antecubital fossa and hypoplastic patellae. In addition, she had other characteristic findings, including bilateral iliac horn, triangular nail lunulae and hypoplastic radial head. She had impaired renal function, and renal biopsy showed mesangial proliferative glomerulonephritis. Additional cases were found in her family. Her mother had most of the signs of NPS as well as advanced renal failure. Her elder sister had knee abnormalities without the web-like elbow condition. Both daughters also had the characteristic features of NPS. During follow-up 30 months after the initial examination, the patient had stable renal function and mild proteinuria.- - - - - - - - - - ranking = 1.4706111080049E-7keywords = horn (Clic here for more details about this article) |
8/45. nail-patella syndrome associated with mixed crystal deposition arthropathy.This report describes a case of nail-patella syndrome in a woman with a strong family history who presented with effusions in her shoulder and knees. Microscopic examination of the shoulder fluid suggested the presence of calcium pyrophosphate dihydrate (CPPD) crystals, and examination of the knee fluid suggested both hydroxyapatite (HAP) and CPPD crystals. To our knowledge, the coexistence of these two conditions has not been reported in the past. Moreover, it brings up a new element regarding the inflammatory origin of the nail-patella syndrome.- - - - - - - - - - ranking = 0.50002689902285keywords = nail-patella syndrome, nail-patella (Clic here for more details about this article) |
9/45. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of nail-patella syndrome.The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of chromosome 9q. We present an 11-year-old girl with clinical features consistent with BCNS including bridging of sella turcica, biparietal bossing, downward slanting palpebral fissures, mandible prognathism, pectus excavatum, thumb abnormalities, occult spina bifida at L5-S4, numerous basal cell nevi, and single basal cell carcinoma. cytogenetic analysis using high-resolution banding techniques and fluorescence in situ hybridization (FISH) revealed interstitial chromosome deletion 9q22.32-q33.2 involving the PTCH gene as a secondary breakage event to a chromosome translocation t(9;17)(q34.1;p11.2)mat. Further FISH studies showed the translocation breakpoint on 9q34.11 maps proximal to ABL, between the BAC clone RP11-88G17 and the LMX1B gene. The latter gene encodes a transcription factor, in which loss of function mutations are responsible for the nail-patella syndrome (NPS, #161200 OMIM). Interestingly, some features of our proband (e.g., bilateral patellar dysplasia and abnormal clavicular shape), as well as her healthy sister who carries the same translocation, are also found in patients with NPS. The chromosome 17p11.2 breakpoint maps in the smith-magenis syndrome common deletion region, within two overlapping BAC clones, CTD-2354J3 and RP11-311F12.- - - - - - - - - - ranking = 0.49999992646944keywords = nail-patella syndrome, nail-patella (Clic here for more details about this article) |
10/45. Nail-patella glomerulopathy without associated constitutional abnormalities.A 17-year-old boy presented with a history of longstanding hematuria and non-nephrotic proteinuria without renal insufficiency, for which renal biopsy was performed. The findings by routine light microscopy and direct immunofluorescence study were mild and nonspecific. Electron microscopy, however, demonstrated the unexpected finding of distinct collagen fibrils within capillary wall basement membranes, typical of the nail-patella syndrome. Repeat physical examination following the biopsy confirmed the presence of normal nails and patellae, and radiographs of the knees were also normal. The boy's renal disease was stable at last follow-up. The authors briefly discuss the differential diagnosis, and suggest that this case represents an unusual manifestation of the nail-patella syndrome, in which the glomerular changes are present in the absence of the usual associated constitutional abnormalities.- - - - - - - - - - ranking = 0.99999985293889keywords = nail-patella syndrome, nail-patella (Clic here for more details about this article) |
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