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.

An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome

“…The name is derived from the ophthalmologic findings of bilateral vertical iridal and choroidal colobomas, which give the appearance of cat eyes. 1,2 CES, also known as Schmid-Fraccaro syndrome, is a rare genetic disorder caused by duplication or triplication of the proximal long (q)arm of chromosome 22, including regions proximal to the common region deleted in patients with DiGeorge and Velocardiofacial syndromes. 1,3,4 The most common cause of this disorder is the presence of a supernumerary dicentric chromosome 22, often observed in mosaic form.…”

“…This extra chromosome is typically comprised of two "mirror-image" copies of the satellite, short arm, and centromeric region of chromosome 22, including a portion of the long arm of chromosome 22 with a "hinge point" at 22q11.21. 1,2 The syndrome affects approximately 1 in every 50,000 to 150,000 live births. 2,4 Phenotypic variance is common.…”

“…1,2 The syndrome affects approximately 1 in every 50,000 to 150,000 live births. 2,4 Phenotypic variance is common. Other common characteristics include urogenital malformations and congenital heart defects, which can cause significant morbidity and mortality.…”

Type B Interrupted Aortic Arch and Hydrocephalus Associated with Mosaicism of a 1.37 Mb Amplified Cat Eye Syndrome Critical Region

“…6 The TBX1 gene encoding an important transcriptional factor implicated in numerous developmental processes and contained in the DGS/VCFS region has been tentatively correlated with the occurrence of polydactyly. 7 However, the supernumerary marker in our patient did not include TBX1. A few research results have suggested an important role of other unknown genes or complex interactions between amplified regions in the pathogenesis.…”

Cecr2 mutant mice as a model for human cat eye syndrome

“…We show that Cecr2 homozygotes can have post-and pre-axial polydactyly, of which only pre-axial involves cartilage or bone. Only one relevant case of CES has been reported with right upper limb post-axial polydactyly 24 . A more common skeletal defect in CES is scoliosis 2,3 .…”