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Biomedical subjects

A D Udwadia

Publications and source records attributed to A D Udwadia.

3 recordsLinked to original sources

Familial congenital valvar pulmonary stenosis: autosomal dominant inheritance.

A mother and three of her four children, one girl and two boys, who had valvar pulmonary stenosis are described. One child had an associated septum secundum atrial septal defect, and another had an associated ventricular septal defect. An autosomal dominant mode of inheritance is likely for the valvar pulmonary stenosis. The association of additional cardiac lesions in two of the three siblings raises the possibility of closely associated genetic loci.

Adult↗

Fraser syndrome.

Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

Abnormalities, Multiple↗