Ann Clin Case Rep | Volume 7, Issue 1 | Case Report | Open Access

Silver–Russell Syndrome in a Newborn, with the Phenotype of Potter Sequence and Renal Malformations

Jungmin Ahn1,2 and Kyung Hee Han2*

1Department of Pediatrics, Yonsei University College of Medicine, Korea 2Department of Pediatrics, Jeju National University Hospital, Korea

^*Correspondance to: Kyung Hee Han 

Abstract

Characteristics of Silver-Russell syndrome (SRS) include prenatal or postnatal growth retardation, body asymmetry, and relative macrocephaly at birth. The case patient was diagnosed with SRS, showing Potter sequence as a kidney anomaly at birth, growth retardation, and body asymmetry during growth. Kidney anomaly is not included in the diagnostic criteria for SRS. Since imprinting disorder can have multi loci mutation, genetic testing is required even if the NH-CSS score is low.

Keywords:

Kidney; Phenotype; Silver-Russell syndrome

Citation:

Ahn J, Han KH. Silver–Russell Syndrome in a Newborn, with the Phenotype of Potter Sequence and Renal Malformations. Ann Clin Case Rep. 2022; 7: 2165..