Fryns anophthalmia plus syndrome
Journal Title: Scholars Journal of Medical Case Reports - Year 2016, Vol 4, Issue 4
Abstract
We report a rare case of a 26 year female at 24-25 weeks gestation with complaint of leaking per vaginum whose USG revealed a 20-22 weeks IUD fetus with no midline falx, minimal brain tissue, marked dilatation of ventricular system and occipital encephalocele of 21×18mm size. Facial profile revealed a 14mm upper cleft lip and palate. Eye sockets and nasal bone could not be seen. She was terminated by misoprostol induction when she delivered a congenitally malformed IUD female child which had phenotype resembling a very rare reported Fryns anophthalmia plus syndrome, which may be a recessive trait although intrauterine factors cannot be excluded. The family was advised genetic counseling and about the condition and risks of inheritance in future pregnancies. Until this time 14 cases were reported that might represent anophthalmia plus syndrome. Keywords:
Authors and Affiliations
Verma Asha, Bansal Neha, Sharma Bhoomika, Chakraborty Arpita
Keywords
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