MECKEL GRUBER SYNDROME: A CASE REPORT WITH EMPHASIS ON IMPORTANCE OF ANTENATAL DIAGNOSIS
Journal Title: Journal of Evolution of Medical and Dental Sciences - Year 2016, Vol 5, Issue 24
Abstract
Meckel Gruber Syndrome [MGS] is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, CNS malformations, post-axial polydactyly, hepatic developmental defects and pulmonary hypoplasia. Karyotyping has to be done when MGS is suspected to exclude chromosomal disorder. Most infants are stillborn or die hours or days after birth because of pulmonary hypoplasia. Parents should be counselled of the likely recurrence. Recurrence of the syndrome may be evaluated as soon as 14 weeks by ultrasound. Here, we report a case of antenatally detected MGS with confirmation of the findings following abortion.
Authors and Affiliations
Nanjaraj , Shruti Barki , Shashikumar , Rajendrakumar , Chandrashekar
Keywords
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- EP ID EP149322
- DOI 10.14260/jemds/2016/308
- Views 81
- Downloads 0
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