Prader-Willi
Prader-Willi Syndrome: Consensus Diagnostic Criteria
... Prader-Willi Syndrome: Consensus Diagnostic Criteria.. Vanja A.[r] ...
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Body composition, adipokines, bone mineral density and bone remodeling markers in relation to IGF-1 levels in adults with Prader-Willi syndrome
... Life expectancy in individuals with Prader-Willi syn- drome is decreased and this shortened lifespan is mainly the result of metabolic, cardiovascular and respiratory complications. There might be a ...
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Scoliosis in Patients With Prader-Willi Syndrome
... Our goals were to determine the prevalence and estimate the evolution of spinal deformities in patients suffering from Prader-Willi syndrome; find out which kind of spine deformity predo[r] ...
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Mental health problems in children with prader willi syndrome
... Contexte: Le syndrome Prader-Willi (SPW) et un trouble neurodéveloppemental génétique qui touche environ un enfant sur 22 000. Objectif: Étudier les caractéristiques psychiatriques d’enfants ayant reçu un ...
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Prader–Willi syndrome in neonates: twenty cases and review of the literature in Southern China
... Prader–Willi syndrome (PWS) is a complex multisystem abnormality, first reported by Prader and colleagues in 1956. The syndrome is generally caused by an abnormality in the q11-13 region on paternal ...
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Prader-Willi syndrome : parent perceptions of school, professional, social, and informational support, and relations between support, child behavior, and stress
... The Global Assessment of Individual’s Behavior–Prader-Willi Syndrome (GAIB-PWS; Tasse et al., 2002) was also used to inform the content of the CSS in regard to PWS child maladaptive behavior symptoms. The ...
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High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome
... Genoni G, Bona G. Acylated/unacylated ghrelin ratio in cord blood: correlation with anthropometric and metabolic parameters and pediatric lifespan comparison. Eur j endocrinol / Eur Fed Endocr Soc. 2012;166:115 – 20. 32. ...
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ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison
... Superficially, one might consider that ROHHAD bears some similarity to Prader-Willi syndrome (PWS), be- cause both syndromes are marked by childhood obesity [9–11]. Caused by a lack of the paternal ...
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6q16.3q23.3 duplication associated with Prader-Willi-like syndrome
... The patient, a male, was born to healthy, non- consanguineous parents and has 2 sisters. The heights of the father and mother are 174 and 156 cm, respectively. The patient was born at full term; his birth weight was 3610 ...
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Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader Willi syndrome
... for Prader-Willi research grant (to JPW, BYHL, and GSHY), a Wellcome Trust 4-year PhD Studentship (to JPW, SOR, GSHY), and an MRC Metabolic Dis- ease Unit ...
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Periodontal disease in a patient with Prader Willi syndrome: a case report
... Prader-Willi syndrome (PWS) is a complex multi-system genetic disorder that results from abnormalities in the critical region of chromosome 15q11.2-q13, including paternal interstitial deletion, maternal ...
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Prader–Willi syndrome and autism spectrum disorders: an evolving story
... It is unknown why the group with type I deletions showed age-related mellowing, but a reasonable explana- tion involves those genes that are deleted in type I individuals but present in others with PWS. Of these, CYFIP1 ...
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Endocrine manifestations and management of Prader-Willi syndrome
... Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. In infancy it is characterized by hypotonia with poor ...
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Growth Standards of Infants With Prader-Willi Syndrome
... OBJECTIVE: To generate and report standardized growth curves for weight, length, head circumference, weight/length, and BMI for non– growth hormone–treated white infants (boys and girls) with Prader- Willi ...
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Prader-Willi syndrome: A primer for clinicians
... with Prader-Willi syndrome present with neona- tal hypotonia, hypoplasia of the clitoris/labia minora in girls and small penis and undescended testis in ...
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Repetitive activities and compulsive behaviours in autism and Prader-Willi syndrome
... with Prader-Willi ...with Prader-Willi syndrome were found only between groups with DQ in the moderate to severe range, rather than across the DQ range of ability and these were neither ...
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Multimodal imaging in a patient with Prader–Willi syndrome
... Background: Prader–Willi syndrome (PWS) is a genetic disease caused by loss of expression of the paternally inher- ited copy of several genes on the long arm of chromosome ...
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Rectal Bleeding in Prader-Willi Syndrome
... Despite treatment with topical steroids and attempts to discourage rectal picking behavior, the patient continues having intermittent rectal bleeding, and, at last follow-up at 25 years [r] ...
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Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome
... The aim of the current study was to investigate the prevalence of congenital defects observed in PWS patients and to compare this preva- lence with that described in the general populati[r] ...
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Standards for Selected Anthropometric Measurements in Prader-Willi Syndrome
... breadth, hand length, middle finger length, palm length, hand breadth, foot length, foot breadth, triceps skinfold,.. and subscapular skinfold.[r] ...
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