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Quoted phrase not found in phrase index: "Malformation syndrome with short stature"
Page 1
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group. Gravholt CH, et al. Eur J Endocrinol. 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. Eur J Endocrinol. 2017. PMID: 28705803 Review.
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. ...These four questions related to the efficacy and most optimal treatment of short stature, infert …
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisc …
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
Faghri S, Tamura D, Kraemer KH, Digiovanna JJ. Faghri S, et al. J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25. J Med Genet. 2008. PMID: 18603627 Free PMC article. Review.
Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abnormalities. A systematic literature review identified 112 patients ranging from 12 weeks to 47 years of age (median 6 years). In addition to …
Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abnorma …
Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.
Khojah O, Alamoudi S, Aldawsari N, Babgi M, Lary A. Khojah O, et al. Childs Nerv Syst. 2021 Dec;37(12):3847-3860. doi: 10.1007/s00381-021-05284-8. Epub 2021 Aug 3. Childs Nerv Syst. 2021. PMID: 34345934 Free PMC article.
PURPOSE: To systematically review reported cases of Seckel syndrome (SS) and point out cases associated with central nervous system (CNS) vasculopathy and provide a summary of their clinical presentation, management, and outcomes including our illustrative case. METHODS: W …
PURPOSE: To systematically review reported cases of Seckel syndrome (SS) and point out cases associated with central nervous system ( …
Growth assessment in children with Williams-Beuren syndrome: a systematic review.
de Sousa Lima Strafacci A, Fernandes Camargo J, Bertapelli F, Guerra Júnior G. de Sousa Lima Strafacci A, et al. J Appl Genet. 2020 May;61(2):205-212. doi: 10.1007/s13353-020-00551-x. Epub 2020 Mar 10. J Appl Genet. 2020. PMID: 32157657
Williams-Beuren syndrome (WBS) is a rare genetic disease caused by a sporadic heterozygous microdeletion in 7q11.23. It is characterized by distinctive facial appearance, cardiopathy, short stature, intellectual disability, and endocrine abnormalities. …
Williams-Beuren syndrome (WBS) is a rare genetic disease caused by a sporadic heterozygous microdeletion in 7q11.23. It is characteri …
Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Patti G, Scaglione M, Maiorano NG, Rosti G, Divizia MT, Camia T, De Rose EL, Zucconi A, Casalini E, Napoli F, Di Iorgi N, Maghnie M. Patti G, et al. Front Endocrinol (Lausanne). 2023 Jul 28;14:1213098. doi: 10.3389/fendo.2023.1213098. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37576960 Free PMC article.
BACKGROUND: Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest d …
BACKGROUND: Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmor …
Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review.
Singh A, Pajni K, Panigrahi I, Khetarpal P. Singh A, et al. Curr Pediatr Rev. 2023;19(2):157-168. doi: 10.2174/1573396318666220315142542. Curr Pediatr Rev. 2023. PMID: 35293298
BACKGROUND: Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic facial features and underlying genetic heterogeneity. ...Studies involving mice as experimental animals have been helpful in understanding the underlying …
BACKGROUND: Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic facial feature …
Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF. Schigt H, et al. J Clin Endocrinol Metab. 2023 Aug 18;108(9):e754-e768. doi: 10.1210/clinem/dgad147. J Clin Endocrinol Metab. 2023. PMID: 36916904 Free PMC article.
CONTEXT: Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. ...Systematic review of all reported KCS cases showed that the phenotypes of KCS1 and KCS2 overlap for postnat …
CONTEXT: Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, …
Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.
Orso M, Polistena B, Granato S, Novelli G, Di Virgilio R, La Torre D, d'Angela D, Spandonaro F. Orso M, et al. PLoS One. 2022 Feb 25;17(2):e0264403. doi: 10.1371/journal.pone.0264403. eCollection 2022. PLoS One. 2022. PMID: 35213607 Free PMC article.
The estimated prevalence of growth hormone deficiency (GHD) was 1/4,000-10,000 in the general population of children; the prevalence of Short Stature HOmeoboX Containing gene deficiency (SHOX-D) was 1/1,000-2,000 in the general population of children; the birth prev …
The estimated prevalence of growth hormone deficiency (GHD) was 1/4,000-10,000 in the general population of children; the prevalence of S …
Recombinant growth hormone for children and adolescents with Turner syndrome.
Baxter L, Bryant J, Cave CB, Milne R. Baxter L, et al. Cochrane Database Syst Rev. 2007 Jan 24;(1):CD003887. doi: 10.1002/14651858.CD003887.pub2. Cochrane Database Syst Rev. 2007. PMID: 17253498 Free article. Review.
One of the most prevalent and salient features of the syndrome is extremely short stature. Untreated women are approximately 20 to 21 cm shorter than normal women within their respective populations. ...AUTHORS' CONCLUSIONS: Recombinant human growth hormone ( …
One of the most prevalent and salient features of the syndrome is extremely short stature. Untreated women are approxim …
Growth Hormone Treatment for Adults With Prader-Willi Syndrome: A Meta-Analysis.
Rosenberg AGW, Passone CGB, Pellikaan K, Damiani D, van der Lely AJ, Polak M, Bernardo WM, de Graaff LCG. Rosenberg AGW, et al. J Clin Endocrinol Metab. 2021 Sep 27;106(10):3068-3091. doi: 10.1210/clinem/dgab406. J Clin Endocrinol Metab. 2021. PMID: 34105729 Free PMC article.
CONTEXT: Features of Prader-Willi syndrome (PWS) overlap with features of growth hormone (GH) deficiency, like small hands and feet, short stature, increased body fat, and low muscle mass and strength. ...
CONTEXT: Features of Prader-Willi syndrome (PWS) overlap with features of growth hormone (GH) deficiency, like small hands and feet, …
16 results