Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.
نویسندگان
چکیده
منابع مشابه
Familial hypothyroidism with autosomal dominant inheritance.
Three generations of a family with clinical and subclinical hypothyroidism caused by thyroid stimulating hormone (TSH) unresponsiveness are described. Findings were low to normal serum thyroxine, raised serum TSH, and low radioiodine uptake; goitre was notably absent. This family is the first evidence of an autosomal dominant mode of transmission of TSH unresponsiveness and may enable identific...
متن کاملPrimary spontaneous pneumothorax in two siblings suggests autosomal recessive inheritance.
We report on a sister and brother with recurrent spontaneous pneumothorax without underlying connective tissue disease and without other affected relatives. The occurrence of spontaneous pneumothorax in two siblings from a large Finnish family raises the possibility of autosomal recessive inheritance of this disorder in some patients.
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BACKGROUND Familial hiatal hernia has only rarely been documented. AIMS To describe the pattern of inheritance of familial hiatal hernia within an affected family. SUBJECTS Thirty eight members of a family pedigree across five generations. METHODS All family members were interviewed and investigated by barium meal for evidence of a hiatal hernia. RESULTS Twenty three of 38 family member...
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Eight members of a large kindred of mixed ancestry from a remote rural area of South Africa were investigated for deafness. In each, severe permanent perceptive hearing loss had developed during antituberculous therapy with streptomycin sulphate in conventional doses. Although unproven by the data available in this study, the familial aggregation and pattern of distribution of sensitivity to st...
متن کاملFamilial pulmonary hypertension. Evidence of autosomal dominant inheritance.
A patient with primary pulmonary hypertension is the fourth member of a family proven to have the disease. The patient's father married twice; the disease appeared in both families, and was transmitted through two generations. Multiple genetic and environmental factors may result in pulmonary hypertension, but the distribution of cases in this family and in others reported is consistent with th...
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ژورنال
عنوان ژورنال: Thorax
سال: 1998
ISSN: 0040-6376,1468-3296
DOI: 10.1136/thx.53.2.151