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Page 1
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists …
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syn …
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S. Milani D, et al. Ital J Pediatr. 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1. Ital J Pediatr. 2015. PMID: 25599811 Free PMC article. Review.
RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical …
RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal …
Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.
Walenkamp MJ, Losekoot M, Wit JM. Walenkamp MJ, et al. Endocr Dev. 2013;24:128-37. doi: 10.1159/000342841. Epub 2013 Feb 1. Endocr Dev. 2013. PMID: 23392101 Review.
Molecular defects of the insulin-like growth factor 1 gene (IGF1) are rare in the human. Only three homozygous and two families with heterozygous mutations of the IGF1 gene have been described, resulting in a variable degree of intrauterine and postnatal growth …
Molecular defects of the insulin-like growth factor 1 gene (IGF1) are rare in the human. Only three homozygous and two families with …
Silver-Russell syndrome: genetic basis and molecular genetic testing.
Eggermann T, Begemann M, Binder G, Spengler S. Eggermann T, et al. Orphanet J Rare Dis. 2010 Jun 23;5:19. doi: 10.1186/1750-1172-5-19. Orphanet J Rare Dis. 2010. PMID: 20573229 Free PMC article. Review.
Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically characterised by …
Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal …
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
RESULTS: The core clinical phenotype is characterised by developmental delay particularly in the domain of speech development, postnatal growth retardation, microcephaly and facial dysmorphism. ...
RESULTS: The core clinical phenotype is characterised by developmental delay particularly in the domain of speech development, postnatal …
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S. Faundes V, et al. Genet Med. 2021 Jul;23(7):1202-1210. doi: 10.1038/s41436-021-01119-8. Epub 2021 Mar 5. Genet Med. 2021. PMID: 33674768 Free PMC article.
Thirteen individuals had maternally inherited variants and one had a paternally inherited variant. Neonatal feeding difficulties, hypoglycemia, postnatal growth retardation, poor weight gain, motor delay, intellectual disability (ID), microcephaly, congenital …
Thirteen individuals had maternally inherited variants and one had a paternally inherited variant. Neonatal feeding difficulties, hypoglycem …
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
Marzano F, Chiara M, Consiglio A, D'Amato G, Gentile M, Mirabelli V, Piane M, Savio C, Fabiani M, D'Elia D, Sbisà E, Scarano G, Lonardo F, Tullo A, Pesole G, Faienza MF. Marzano F, et al. Int J Mol Sci. 2023 Jul 31;24(15):12291. doi: 10.3390/ijms241512291. Int J Mol Sci. 2023. PMID: 37569667 Free PMC article.
Microcephalic Osteodysplastic Primordial Dwarfism type II (MOPDII) represents the most common form of primordial dwarfism. MOPD clinical features include severe prenatal and postnatal growth retardation, postnatal severe microcephaly, hypotonia, and an …
Microcephalic Osteodysplastic Primordial Dwarfism type II (MOPDII) represents the most common form of primordial dwarfism. MOPD clinical fea …
Metabolic implications of GH treatment in small for gestational age.
Delemarre EM, Rotteveel J, Delemarre-van de Waal HA. Delemarre EM, et al. Eur J Endocrinol. 2007 Aug;157 Suppl 1:S47-50. doi: 10.1530/EJE-07-0163. Eur J Endocrinol. 2007. PMID: 17785697 Review.
Fetal growth retardation is associated with decreased postnatal growth, resulting in a lower adult height. In addition, a low birth weight is associated with an increased risk of developing diseases during adulthood, such as insulin resistance, type 2 …
Fetal growth retardation is associated with decreased postnatal growth, resulting in a lower adult height. In ad …
Glucose intolerance and insulin resistance in extremely premature newborns, and implications for nutritional management.
Yeung MY. Yeung MY. Acta Paediatr. 2006 Dec;95(12):1540-7. doi: 10.1080/08035250600658077. Acta Paediatr. 2006. PMID: 17129959 Review.
Glucose intolerance and postnatal growth retardation are commonly seen in low-gestation newborns. ...CONCLUSION: A nutrition regime that simulates placental nutrient delivery would potentially minimize glucose intolerance and facilitate early attainment of no …
Glucose intolerance and postnatal growth retardation are commonly seen in low-gestation newborns. ...CONCLUSION: A nutr …
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation.
Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N. Eggermann T, et al. Pediatrics. 2009 May;123(5):e929-31. doi: 10.1542/peds.2008-3228. Epub 2009 Apr 13. Pediatrics. 2009. PMID: 19364767
PATIENTS AND METHODS: We report on our experience of molecular testing in 188 patients referred for routine diagnostics of Silver-Russell syndrome and in a group of 20 patients with isolated intrauterine growth restriction/postnatal growth retardation. …
PATIENTS AND METHODS: We report on our experience of molecular testing in 188 patients referred for routine diagnostics of Silver-Russell sy …
18 results