Cat eye syndrome

BMJ Case Rep. 2014 May 19:2014:bcr2014203923. doi: 10.1136/bcr-2014-203923.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / 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*
  • Heart Defects, Congenital / diagnostic imaging
  • Heart Septal Defects, Atrial / diagnostic imaging
  • Heart Ventricles / abnormalities*
  • Heart Ventricles / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Microcephaly / diagnosis
  • Monitoring, Physiologic
  • Term Birth
  • Ultrasonography

Supplementary concepts

  • Right ventricle hypoplasia
  • Schmid-Fraccaro syndrome