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Research Notes: PWS Abstracts - 1990[ 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1990 | 1980-1989 | 1979 and prior ] Am J Dis Child. 1990 Nov. A retrospective study of 16 patients was undertaken to identify physical features that may typify neonates with Prader-Willi syndrome. Several features known to be typical of Prader-Willi syndrome in early infancy were confirmed, including hypotonia and genital hypoplasia. A number of features that have not previously been emphasized as characterizing Prader-Willi syndrome were also identified, most notably abnormal cry and, in males, signs of genital hypoplasia but with an apparently normal phallus. Other features included disproportionately large head circumference, disproportionately large anterior fontanelle, mild micrognathia, mild anomalies of the gingivae or alveolar ridges, and changes in the appearance of the skin. Appreciation of these features may assist the pediatrician in recognizing the child with Prader-Willi syndrome during the neonatal period, before the appearance of better-known findings of later onset, such as obesity and acromicria. J Speech Hear Disord. 1990 May. Prader-Willi syndrome was initially identified in 1956. Since then, a majority of the literature pertaining to Prader-Willi has focused on the medical and genetic aspects of the syndrome. There has been limited information available regarding the speech and language abilities of children with Prader-Willi. This study investigated the communicative development of 18 children with the syndrome, ranging in age from 8:8 to 17:1. A number of evaluative procedures were used to evaluate the subjects' spontaneous speech, articulation, and receptive and expressive language abilities, as well as their voice, fluency, oral mechanisms, hearing, and their developmental histories. A variety of communicative deficiencies were found in the children's speech, language, voice, and fluency. Postgrad Med J. 1990 Mar. A 28 year old woman with the Prader-Willi syndrome developed chest pain and loss of anterior R wave amplitude on the electrocardiogram. Cardiac catheterization demonstrated a severe proximal stenosis of the left anterior descending artery with delayed antegrade flow together with antero-apical akinesia consistent with myocardial infarction. Physicians involved in the management of patients with the Prader-Willi syndrome should be aware of this association with premature coronary artery disease. Endocrinol Jpn. 1990 Feb. We report an adolescent patient with Prader-Willi syndrome accompanying suppressible hypergonadotropism. The subject is an 18-year-old female. She was obese (body mass index: 35.7) and hypomyotonic with mental retardation. On endocrinological examination, a high serum LH concentration and hyperresponsiveness of luteinizing hormone (LH) to intravenously administered LH-Releasing Hormone (LH-RH) were observed, while the basal follicle stimulating hormone level was within the normal range. In addition, serum dehydroxyepiandrosterone sulfate (DHEA-S) was also increased. Following 2 mg dexamethasone administration for 7 days, serum LH and DHEA-S were almost normalized and hyperresponse of LH to LH-RH completely disappeared. The present study provides evidence that altered responsiveness to adrenal steroid may be involved in the establishment of hypergonadotropinism in an adolescent patient with Prader-Willi syndrome. [ 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1990 | 1980-1989 | 1979 and prior ] |