Cat eye syndrome.

Abstract

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
• Journal: BMJ case reports (BMJ Case Rep) Vol. 2014 (May 19 2014) ISSN: 1757-790X [Electronic] England
• PMID: 24842361 (Publication Type: Case Reports, Journal Article)
• Copyright: 2014 BMJ Publishing Group Ltd.

Topics

• Abnormalities, Multiple (diagnosis, diagnostic imaging)
• Aneuploidy
• Birth Weight
• Chromosome Disorders (diagnosis)
• Chromosomes, Human, Pair 22
• Ductus Arteriosus, Patent (diagnostic imaging)
• Eye Abnormalities
• Fatal Outcome
• Female
• Heart Defects, Congenital (diagnosis, diagnostic imaging)
• Heart Septal Defects, Atrial (diagnostic imaging)
• Heart Ventricles (abnormalities, diagnostic imaging)
• Humans
• Infant, Newborn
• Microcephaly (diagnosis)
• Monitoring, Physiologic
• Term Birth
• Ultrasonography