Document Detail


Cat eye syndrome.
MedLine Citation:
PMID:  24842361     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. Immediately after birth, the infant was shifted to the nursery and was started on intravenous fluids and infusion prostaglandin E1 (Alprostidil). On examination, she had microcephaly, periorbital puffiness, a long philtrum, a broad nasal bridge and retrognathia, up slanting palpebral fissures, widely spaced nipples, a sacral dimple and right upper limb postaxial polydactyly. Postnatal echocardiography confirmed a large ostium secundum atrial septal defect with left to right shunt, right ventricle hypoplasia, pulmonary atresia with an intact septum and a large vertical patent ductus arteriosus. Ophthalmological examination showed a bilateral chorioretinal coloboma sparing disc and fovea. Karyotyping showed an extra small marker chromosome suggestive of the Cat eye syndrome.
Authors:
Deepak Sharma; Srinivas Murki; Tejo Pratap; Madhavi Vasikarla
Publication Detail:
Type:  Journal Article     Date:  2014-05-19
Journal Detail:
Title:  BMJ case reports     Volume:  2014     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2014  
Date Detail:
Created Date:  2014-05-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
Copyright Information:
2014 BMJ Publishing Group Ltd.
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