1999
DOI: 10.1055/s-2007-993832
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Prader-Willi Syndrome Associated with Fetal Goiter: A Case Report

Abstract: 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.

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Cited by 15 publications
(7 citation statements)
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“… 4 reported CH, based on low serum TT4 and/or elevated TSH levels, in 32% of 28 children with PWS (mean age 5 ± 3·6 y), independently of GH deficiency. However, studies on thyroid hormone levels in children with PWS, especially during the first 2 y of postnatal life, are limited 15–17 . Our findings of low serum FT4 and/or TT4 in 72·2% of infant PWS patients, in the presence of serum TSH levels within the normal reference value, indicate the occurrence of an abnormality in the hypothalamic‐pituitary‐thyroid axis, at the central level at an early age.…”
Section: Discussionmentioning
confidence: 69%
“… 4 reported CH, based on low serum TT4 and/or elevated TSH levels, in 32% of 28 children with PWS (mean age 5 ± 3·6 y), independently of GH deficiency. However, studies on thyroid hormone levels in children with PWS, especially during the first 2 y of postnatal life, are limited 15–17 . Our findings of low serum FT4 and/or TT4 in 72·2% of infant PWS patients, in the presence of serum TSH levels within the normal reference value, indicate the occurrence of an abnormality in the hypothalamic‐pituitary‐thyroid axis, at the central level at an early age.…”
Section: Discussionmentioning
confidence: 69%
“…Only two patients with documented multiple joint contractures have been described (Bigi et al, 2008; Denizot et al, ). Prenatal hypotonia seem to occur late in second and third trimester (Gross, Rabinowitz, Gross‐Tsur, Hirsch, & Eldar‐Geva, ; Insoft, Hurvitz, Estrella, & Krishnamoorthy, ; Oiglane‐Shlik et al, ) and might explain the possible presence of reducible and transitory joint limitation such as adducted thumbs (Haugen, Rønnestad, & Kroken, ; Klinge, Scott, & de Sousa, ; Oiglane‐Shlik et al, ). Rather a differential diagnosis in AMC patients with severe hypotonia.…”
Section: Investigationsmentioning
confidence: 99%
“…Polyhydramnios is due to fetal swallowing disorder, which is a constant finding after birth (Fong and De Vries, 2003;Liehr et al, 2005). Diminished fetal movement after 24 weeks of gestation and abnormal fetal position (Insoft et al, 1999;OiglaneShlik et al, 2006) are the prenatal manifestations of postnatal hypotonia. It is possible that the abnormal heart monitoring, which has been reported is also a consequence of hypotonia (Hiroi et al, 2000;Fong and De Vries, 2003).…”
Section: Case Reportmentioning
confidence: 99%