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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Oliveira, Graça Fraga, Beatriz Gomes, Catarina Gouveia, Raquel |
| Description | Author Affiliation: Fraga B ( Department of Pediatrics, Hospital do Divino Espírito Santo, Ponta Delgada, Portugal.); Gomes C ( Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal.); Gouveia R ( Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal.); Oliveira G ( Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal.) |
| 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. |
| Volume Number | 2015 |
| e-ISSN | 1757790X |
| Journal | BMJ Case Reports |
| Language | English |
| Publisher | BMJ Publishing Group Ltd. |
| Publisher Place | Great Britain (UK) |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Kidney Abnormalities Prader-Willi Syndrome Diagnosis Uterus Vagina Abnormalities, Multiple Female Humans Infant, Newborn Syndrome Case Reports Journal Article Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
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