Cases reported "nail-patella syndrome"

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1/56. 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. ( info)

2/56. 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. ( info)

3/56. 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. ( info)

4/56. nail-patella syndrome associated with respiratory chain disorder.

    nail-patella syndrome (NPS) has not been described to be associated with a respiratory chain disorder (RCD) before. In a 42-year-old man with the typical phenotype of an NPS, weakness and wasting of the shoulder girdle muscles, muscle cramps, fatigability, hyperhidrosis, chest pain and creatine kinase elevation were observed. echocardiography revealed left ventricular hypertrabeculation. Needle electromyography was myopathic, lactate stress testing was abnormal, muscle biopsy showed typical features of an RCD and mtDNA analysis revealed the A3243G MELAS mutation. In conclusion, this case demonstrates that NPS may be randomly associated with RCD. NPS patients should undergo detailed cardiological and neurological investigations, in order not to overlook a double trouble partially mimicking NPS. ( info)

5/56. trisomy 8 syndrome.

    trisomy 8 syndrome, with or without mosaicism, is characterized by the following clinical signs and symptoms: mental retardation, deformed skull, prominent forehad, high-arched palate, low-set and/or dysplastic ears, long and slender trunk, reduced joint mobility, and deep plantar furrows. The deep furrow or longitudinal crease of the sole may be pathognomonic for the syndrome. It should be noted that it has been seen in other rare syndromes. It is recommended that a child with mental retardation and associated multiple anomalies should be subjected to a cytogenetic study in order to define the incidence of this syndrome. Differnetial diagnosis should include: Fong's syndrome, arthrogryposis and otopalato-digital syndrome. It is interesting to note that there seem to be individuals who have had no physical abnormalities and have been identified during an evaluation for repeated abortions. The above described case of trisomy 8 mosaicism was seen and treated for many years by many different specialists without an accurate diagnosis. ( info)

6/56. 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. ( info)

7/56. 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. ( info)

8/56. Nail patella syndrome. A 55-year follow-up of the original description.

    The long-term skeletal changes and the lack of significant clinical complaints in a 77-year-old woman with nail patella syndrome are described. Fifty-five years previously she was one of the first reported patients. These early patients came from two families with involvement of multiple individuals with the variable constellation of deformities. We reviewed her skeletal natural history and her family history as it related to nail patella syndrome involvement and treatment, and correlated the original premolecular biology description and subsequent long-term follow-up with the current molecular and genetic concepts of the cause of the variable expression of nail patella syndrome. ( info)

9/56. 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. ( info)

10/56. 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. ( info)
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