2013
DOI: 10.1002/erv.2261
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Concurrence of Anorexia Nervosa and Noonan Syndrome

Abstract: Noonan syndrome (NS) is a genetic disease inherited in an autosomal dominant mode; it presents significant genetic heterogeneity and varying penetrance. Mutations have been identified in several genes, and they account for 75% of all known cases. The majority of reported mutations are localized on PTPN11 gene, which encodes the non-receptor type protein tyrosine phosphatase SHP-2. Diagnosis, however, is mainly established after clinical examination. Anorexia nervosa (AN) is an eating disorder characterized by … Show more

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Cited by 7 publications
(3 citation statements)
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References 26 publications
(31 reference statements)
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“…11 Bruch & Manthorpe 12 also pointed to short stature as a possible causative factor, adding their finding that concurrences with Turner's syndrome were not above the expected frequency. 12 The interest of the present report, like that of the other case recently published, 13 is that these women, with the features of Turner's but a full chromosome count, had normal hormonal function, arguing against a predisposition.…”
Section: Introductionsupporting
confidence: 51%
“…11 Bruch & Manthorpe 12 also pointed to short stature as a possible causative factor, adding their finding that concurrences with Turner's syndrome were not above the expected frequency. 12 The interest of the present report, like that of the other case recently published, 13 is that these women, with the features of Turner's but a full chromosome count, had normal hormonal function, arguing against a predisposition.…”
Section: Introductionsupporting
confidence: 51%
“…A handful of adult case reports have reported co-occurrence of NS and other psychiatric diagnoses including alcohol abuse, anorexia nervosa, bipolar disorder panic disorder, obsessivecompulsive disorder, and schizophrenia (Arvaniti et al 2014;Noonan 2005;Wingbermühle et al 2009). Nevertheless, given the dearth of these types of published reports, there is no clear evidence to suggest that serious mental illness is more common in NS than in the general population.…”
Section: Psychopathology/mental Healthmentioning
confidence: 99%
“…Furthermore, there are incidental reports of psychopathology in adult patients with NS (i.e. schizophrenia, bipolar disorder, panic disorder, obsessive compulsive disorder, alcoholism, oppositional disorder and anorexia nervosa) (Arvaniti, Samakouri, Keskeridou, & Veletza, 2014;Krishna, Abrams, Taylor, & Behar, 1977;Mahendran & Aw, 1989;Noonan, 2005;Verhoeven et al, 2004;Verhoeven, Wingbermühle, Egger, Van der Burgt, & Tuinier, 2008).…”
Section: Introductionmentioning
confidence: 99%