Prader-Willi Syndrome Associated with Fetal Goiter: A Case Report

Insoft, Robert M.; Hurvitz, Jennifer; Estrella, Elicia; Krishnamoorthy, Kalpathy S.

doi:10.1055/s-2007-993832

Cited by 15 publications

(7 citation statements)

References 4 publications

(4 reference 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%

Thyroid axis dysfunction in patients with Prader‐Willi syndrome during the first 2 years of life

Vaiani

Herzovich

Chaler

et al. 2010

Clinical Endocrinology

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Section: Discussionmentioning

confidence: 69%

Thyroid axis dysfunction in patients with Prader‐Willi syndrome during the first 2 years of life

Vaiani

Herzovich

Chaler

et al. 2010

Clinical Endocrinology

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“…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%

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature

Dieterich

Tanno

Kimber³

et al. 2019

American J of Med Genetics Pt C

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Arthrogryposis multiplex congenita, or AMC, is a clinical sign defined as congenital contractures of at least two joint levels. These joint contractures are always secondary to diminished fetal movement which can have numerous causes that affect any part of the anatomical structures implicated in movement: the central nervous system, the anterior horn cell, the nerve, the neuromuscular junction, the muscle, or the joint itself.Make a precise diagnosis of the cause in a patient with multiple joint contractures is therefore challenging. The aim of this article is to summarize the use and diagnostic value of common examinations and analyses performed postnatally in patients affected by AMC from a literature review. We also compare this data with results from our clinical practice. Even though it is difficult to give precise guidelines today, it appears that genetic studies, such as whole exome or genome analysis in all patients and chromosomal microarray analysis in patients with intellectual disability and AMC should be preferred as first tier investigations over EMG and muscle biopsy. K E Y W O R D S AMC, arthrogryposis multiplex congenita, diagnosis, genetic investigations, next generation sequencing

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“…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%

Prader‐Willi syndrome: is there a recognizable fetal phenotype?

et al. 2008

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Objectives To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy. MethodsWe analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy. ResultsIn the first case, diminished fetal movement, polyhydramnios and oddly positioned hands and feet suggested PWS. Methylation studies confirmed diagnosis and a deletion was detected in the 15q11-q13 region. In the second case, similar ultrasound findings led to prenatal diagnosis of PWS with an abnormal methylation pattern compatible with uniparental disomy. Both fetuses had a characteristic appearance at 28 and 30 weeks' gestation, which included a peculiar position of hands with flexed wrists and dorsi-extended feet with flexed toes. ConclusionsThe peculiar position of the extremities combined with diminished fetal movement and polyhydramnios seems to be characteristic and should suggest PWS.

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Prader-Willi Syndrome Associated with Fetal Goiter: A Case Report

Cited by 15 publications

References 4 publications

Thyroid axis dysfunction in patients with Prader‐Willi syndrome during the first 2 years of life

Thyroid axis dysfunction in patients with Prader‐Willi syndrome during the first 2 years of life

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature

Prader‐Willi syndrome: is there a recognizable fetal phenotype?

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