| Literature DB >> 26491004 |
Beatriz Fraga1, Catarina Gomes2, Raquel Gouveia2, Graça Oliveira2.
Abstract
A neonate with a prenatal diagnosis of left renal agenesis was born at 33 weeks gestation. A postnatal abdominal ultrasound confirmed the absence of the left kidney and revealed two non-divergent hemiuteri, consistent with the diagnosis of Herlyn-Werner-Wunderlich syndrome. During admission, significant axial hypotonia was noted, warranting additional investigations. Brain ultrasounds and MRI were normal, as were a preliminary metabolic study and comparative genomic hybridisation array. DNA methylation testing confirmed the diagnosis of Prader-Willi syndrome. The baby was discharged after 70 days, breast feeding and with modest hypotonia improvement. 2015 BMJ Publishing Group Ltd.Entities:
Mesh:
Year: 2015 PMID: 26491004 PMCID: PMC4620214 DOI: 10.1136/bcr-2015-212597
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X