Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome?

Ren Fail. 2011;33(6):635-8. doi: 10.3109/0886022X.2011.585414.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Cleft Lip / diagnosis
  • Cleft Lip / genetics*
  • Diagnosis, Differential
  • Echocardiography
  • Female
  • Follow-Up Studies
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities
  • Kidney Diseases / congenital
  • Kidney Diseases / diagnosis*
  • Palate / abnormalities
  • Phenotype
  • Tomography, X-Ray Computed

Supplementary concepts

  • Thomas syndrome