Infantile glaucoma in Rubinstein–Taybi syndrome
نویسندگان
چکیده
منابع مشابه
Infantile Glaucoma and Corneal Opacity
CASE PRESENTATION A 2-day-old Hispanic female was referred to us by her pediatrician for an evaluation of her hazy corneas and to rule out glaucoma. The patient was born by uncomplicated cesarean section at 37 weeks, at which time she weighed 7 pounds, 4 ounces. There were no exposures or complications during pregnancy, and the patient had no family history of childhood ocular problems. Upon in...
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C audal regression syndrome (CRS) is a rare embryopathy characterized by maldevelopment of the vertebrae, visceral organs, and lower extremities. Patients with CRS have deformities of the sacrococcygeal vertebrae and develop neurogenic bladder from dysfunction of the sacral nerve root. Additional anomalies include congenital heart defects, intestinal malrotation, agenesis of the genitourinary s...
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DARREL, J.H., GARROD, L.P. & WATERWORTH, P.M. (1968) Trimethoprim: laboratory and clinical studies. Journal of Clinical Pathology, 21, 202. DAWSON, D.W. & ROUTLEDGE, R.C. (1971) Trimethoprim and sulphamethoxazole. British Medical Journal, 4, 364. EVANS, D.I.K. & TELL, R. (1969) Agranulocytosis after trimethoprim and sulphamethoxazole. British Medical Journal, 1, 578. HAMMETT, J.F. (1970) Thromb...
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A boy with generalised infantile polyposis syndrome is reported to highlight the difficulties in management. Despite attempts to reduce polyp mass by regular endoscopic polypectomy, daily transfusions of blood products, and a trial of the non-steroidal anti-inflammatory agent sulindac, his condition gradually deteriorated and he died of septicaemia.
متن کامل[Congenital and infantile nephrotic syndrome].
Congenital nephrotic syndrome is present at birth or appears during the first three months of life and infantile nephrotic syndrome during the first year. Finnish type congenital nephrotic syndrome is an autosomal recessive disease. Nephrotic syndrome is present at birth, severe and does not respond to therapy. Infectious and nutritional complications are frequent. Renal function deteriorates n...
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ژورنال
عنوان ژورنال: Eye
سال: 2012
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.2012.123