Importance of Ear and Face Abnormalities in Cat Eye Syndrome – A Prenatal and Postnatal Report
Angel Beula P. Royal, Sridevi Hegde, Prathima Radhakrishnan, Jayaprakash
Cat Eye Syndrome is a rare disorder of chromosome 22 characterized by tetrasomy of the region that spans the chromosome 22p arm and part of 22q11 which is a cat eye syndrome chromosome. Cat eye syndrome exhibits phenotypic variability which may overlap with that of oculo-auriculo-vertebral spectrum and Townes-Brocks syndrome. Features typical of cat eye syndrome include coloboma, auricular malformations, heart and renal anomalies. We report a case of cat eye syndrome, suspected prenatally on ultrasound findings of the ear abnormality and confirmed by cytogenetic analysis of the amniotic fluid. In addition, we report two cases of cat eye syndrome detected postnatally who presented with features such as preauricular tags, anorectal malformation and cardiac defects. It is important to distinguish between the above three features as all of these have different risks. However when phenotypically similar clinical conditions are observed, cytogenetic investigation can confirm cat eye syndrome from the others. It is imperative to evaluate the fetus for cat eye syndrome when a fetus presents with ear and/or cardiac abnormalities during the anomaly scan. During prenatal diagnosis evaluation of ear and fetal face abnormalities can give us an important clue for the underlying genetic or chromosomal syndromes. However, in the postnatal cases, early diagnosis of cat eye syndrome can help the clinical team to provide best management for the individual patient, thereby improving the prognosis.
Angel Beula P. Royal, Sridevi Hegde, Prathima Radhakrishnan, Jayaprakash. Importance of Ear and Face Abnormalities in Cat Eye Syndrome – A Prenatal and Postnatal Report. European Journal of Biotechnology and Bioscience, Volume 1, Issue 4, 2014, Pages 12-15