1/3. 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.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/3. 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 = 16.32053083312keywords = physical examination, physical (Clic here for more details about this article) |
3/3. Bilateral absence of the patella in nail-patella syndrome: delayed presentation with anterior knee instability.A 27-year-old man, while serving in the armed forces, presented with complaints of right knee pain of 3 months duration. The patient reported pain localized on the lateral side of the right knee, especially during long-distance walking and stair climbing, and a feeling of giving way. There was no history of recent or remote trauma to the knee joint. At that time, he presented with knee pain and instability consistent with anterior cruciate ligament (ACL) insufficiency. During physical examination, the diagnosis of nail-patella syndrome (NPS) was made, but magnetic resonance imaging (MRI) of both knees revealed intact ACLs. The reported case presents NPS as a potential nontraumatic cause of anterior knee instability. In our patient, a discrepancy between the clinical and imaging findings was present. The initial clinical examination was consistent with ACL rupture or aplasia and this led to MRI evaluation of the knee, which showed an intact ACL, contrary to the initial diagnosis. It should be noted that anterior instability has been described after patellectomy and could be attributed to complete absence of the patella, which is rare in NPS.- - - - - - - - - - ranking = 16.32053083312keywords = physical examination, physical (Clic here for more details about this article) |