Issues in neonatal hyperbilirubinemia.
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Biomedical subjects
Publications and source records attributed to S F Irani.
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Explore the source record for details and available documents.
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Cryptophthalmos, a very rare congenital anomaly of the eye, is characterised by skin passing continuously from the forehead to the cheek over a malformed eye. It may be isolated or more commonly as a part of Fraser syndrome. Cryptophthalmos is classified into three types: complete, incomplete and abortive. Surgical reconstruction is the modality of treatment available. We present a case of bilateral, complete, isolated cryptophthalmos, who has undergone stage 1 of reconstructive surgery.
Spondylocostal dysostosis is a rare condition characterized by short stature due to a short trunk, multiple morphological abnormalities of the vertebrae and ribs due to malsegmentation of the axial skeleton. Radiological features include reduced number of vertebrae and ribs, hemivertebrae, fused or sagitally cleft vertebrae or multiple rib fusions. Three distinct clinical entities are described. We report nine cases of this syndrome, seven were infants and presented with an abnormal shape of the thorax. Two of them had a meningocoele, and one succumbed to the CNS anomalies on the third day of life. The other two cases were two and eight years of age. Cardiac lesion was detected in one case and renal malformations in three cases. Reduction in the rib number was present in all cases, and rib fusion in seven cases. Thoracic vertebral dysegmentation was noted in all, lumbar in three and cervical in one case. This is the first large series from India. No clear single etiology was established.
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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.
A neonate was born to a mother who had consumed an organophosphorus(OPC) compound with suicidal intent. The mother was administered atropine and this caused mydriasis in the neonate without any other pharmacological effects. There was no evidence of placental dysfunction. There are no case reports of OPC consumed in pregnancy and its effect on neonates or of effects of massive doses of atropine in the mother and its effects on the fetus or the newborn.
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