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Case Studies | Pediatrics | India | Volume 4 Issue 6, June 2015 | Rating: 6.1 / 10
Goldston Syndrome: A Rare Case Report with a New Variant?
Dr. A Thirupathi Reddy, Dr. K. Vani Bai, Dr. Jhansi Rani
Abstract: Goldston Syndrome is a rare entity describing the association of polycystic kidneys and Dandy-Walker malformation with autosomal recessive inheritance. Here, we are presenting a very rare case report of a 3 day old male living neonate born to consanguineously married couple as a 2nd baby with a large head, delayed cry & decreased activity, but clinically stable baby. On evaluation it is found to have Dandy-Walker malformation, bilaterally enlarged kidneys with small cortices and antenatal scan showed polyhydramnios as against oligohydramnios which is usally seen in Goldston syndrome. Such living neonates need to undergo further genetic studies to confirm whether it is a part of Goldston syndrome or any other new variant
Keywords: Goldston Syndrome, Dandy-walker malformation, Polycystic kidneys, genetic studies, new variant
Edition: Volume 4 Issue 6, June 2015,
Pages: 1406 - 1407