Familial dwarfism: case report

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Familial dwarfism: case report.

MIDDLEKAMP, J.N. & HAFFNER, H. (1963) Carcinoma of the colon in children. Pediatrics, 32, 558. MORSON, B.C. & BUSSEY, H.J.R. (1970) Predisposing Causes of Intestinal Cancer-(monograph) Chicago, p. 31. Year Book Publishers, Inc. O'BRIEN, S.E. (1967) Carcinoma of the colon in childhood and adolescence. Canadian Medical Association Journal, 96, 1217. STALPORT, J. & LETAWE, P. (1971) Gardner's synd...

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Familial hypercholesterolemia: a case report

Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...

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Familial hypercholesterolemia: A case report

Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individuals cardiov...

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Familial hypertriglyceridemia-induced acute necrotizing pancreatitis: A case report

Acutepancreatitis can infrequently be a life-threatening complication of hypertriglyceridemia. Rarely, hypertriglyceridemia can originate from an inborn genetic error in lipoproteins metabolism. This condition can be manifested by very high serum triglyceride levels (>1000 mg/dl) and a more severe and lethal form of pancreatitis. Here, we present a case of acute pancreatic which was found out t...

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Familial Achalasia, a Case Report

BACKGROUND Although achalasia is a relatively rare disease in pediatric age group, it must be considered for differential diagnosis of esophageal disorders in children with positive family history even in the absence of typical clinical manifestations. CASE PRESENTATION A 5-month old boy was hospitalized for cough and mild respiratory distress. Because of positive history of achalasia in his ...

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ژورنال

عنوان ژورنال: Postgraduate Medical Journal

سال: 1975

ISSN: 0032-5473

DOI: 10.1136/pgmj.51.599.676