Bilateral Renal Hypoplasia and Cystic Dysplasia: A New Phenotype of Thomas Syndrome or a New Syndrome?

Abstract

Thomas syndrome is a rare syndrome including Potter sequence, renal anomalies, heart defects, cleft palate with other oropharyngeal anomalies. Here, we report a newborn with Potter sequence, bilateral renal hypoplasia and cystic dysplasia, multiple cardiovascular malformations, long large ears, frontal bossing, small lips, partial simple toe syndactyly, and cleft palate. To our best knowledge, this patient may be considered as a new variant of Thomas syndrome or a new syndrome.

• Thomas syndrome
• Potter sequence
• bilateral renal hypoplasia
• cystic dysplasia
• cleft palate