Insoft R M, Hurvitz J, Estrella E, Krishnamoorthy K S
Neonatology Unit, Pediatric Service, Massachusetts General Hospital, Harvard Medical School, Boston, 02114, USA.
Am J Perinatol. 1999;16(1):29-31. doi: 10.1055/s-2007-993832.
We describe a unique case of a newborn with Prader-Willi syndrome who presented with fetal goiter as well as neonatal thyroid abnormalities, marked hypotonia, and thrombocytopenia. These new clinical observations may correlate with the uniparental monodisomy form of inheritance of this genetic condition.
我们描述了一例患有普拉德-威利综合征的新生儿的独特病例，该患儿表现为胎儿甲状腺肿以及新生儿甲状腺异常、明显的肌张力减退和血小板减少。这些新的临床观察结果可能与这种遗传疾病的单亲二体遗传形式相关。
