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Italian Journal of Pediatrics
Published in: Italian Journal of Pediatrics 1/2015

Open Access 01-12-2015 | Debate

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

Authors: Donatella Milani, Francesca Maria Paola Manzoni, Lidia Pezzani, Paola Ajmone, Cristina Gervasini, Francesca Menni, Susanna Esposito

Published in: Italian Journal of Pediatrics | Issue 1/2015

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Abstract

Background

Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. 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 features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS.

Discussion

RSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features.

Summary

The clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.
Literature
1.
Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963;105:588–608.PubMedCrossRef
2.
Imaizumi K, Kuroki Y. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3). Am J Med Genet A. 1991;38:636–9.CrossRef
3.
Lacombe D, Saura R, Taine L, Battin J. Confirmation of assignment of a locus for Rubinstein- Taybi syndrome gene to 16p13.3. Am J Med Genet A. 1992;44:126–8.CrossRef
4.
Tommerup N, van der Hagen CB, Heiberg A. Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). Am J Med Genet A. 1992;44:237–41.CrossRef
5.
Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, et al. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet. 1993;52:249–54.PubMedCentralPubMed
6.
Hennekam RC, Tilanus M, Hamel BC, Voshart-van Heeren H, Mariman EC, van Beersum SE, et al. Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Am J Hum Genet. 1993;52:255–62.PubMedCentralPubMed
7.
Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 1995;376:348–51.PubMedCrossRef
8.
Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, et al. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet. 2002;39:415–21.PubMedCentralPubMedCrossRef
9.
Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, et al. Rubinstein-Taybi syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med Genet. 2006;7:77.PubMedCentralPubMedCrossRef
10.
Goodman RH, Smolik S. CBP/p300 in cell growth, transformation, and development. Genes Dev. 2000;14:1553–77.PubMed
11.
Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005;76:572–80.PubMedCentralPubMedCrossRef
12.
Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet. 2007;44:327–33.PubMedCentralPubMedCrossRef
13.
Bartsch O, Labonté J, Albrecht B, Wieczorek D, Lechno S, Zechner U, et al. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome. Am J Med Genet A. 2010;152A:181–4.PubMedCrossRef
14.
Tsai AC, Dossett CJ, Walton CS, Cramer AE, Eng PA, Nowakowska BA, et al. Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. Eur J Hum Genet. 2011;19(1):43–9.PubMedCentralPubMedCrossRef
15.
Woods SA, Robinson HB, Kohler LJ, Agamanolis D, Sterbenz G, Khalifa M. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. Am J Med Genet A. 2014;164A:251–8.PubMedCrossRef
16.
Negri G, Milani D, Colapietro P, Forzano F, Della Monica M, Rusconi D, et al. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Clin Genet. 2014. doi:10.1111/cge.12348.
17.
Tajir M, Fergelot P, Lancelot G, Elalaoui SC, Arveiler B, Lacombe D, et al. Germline mosaicism in Rubinstein–Taybi syndrome. Gene. 2013;518:476–8.PubMedCrossRef
18.
Beets L, Rodrıguez-Fonseca C, Hennekam RC. Growth charts for individuals with Rubinstein–Taybi syndrome. Am J Med Genet A. 2014;164(9):2300–9.CrossRef
19.
Bonioli E, Bellini C, Sénès FM, Palmieri A, Di Stadio M, Pinelli G. Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome. Clin Genet. 1993;44(2):79–81.PubMedCrossRef
20.
Shah H, Singh G, Vijayan S, Girisha KM. Second report of slipped capital femoral epiphysis in Rubinstein-Taybi syndrome. Clinical Dysmorphology. 2011;20:55–7.PubMedCrossRef
21.
Robson MJ, Brown LM, Sharrard WJ. Cervical spondylolisthesis and other skeletal abnormalities in Rubinstein-Taybi syndrome. J Bone Joint Surg Br. 1980;62:297–9.PubMed
22.
Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, et al. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. Am J Med Genet A. 2005;135:130–3.PubMedCrossRef
23.
Marzuillo P, Grandone A, Luongo C, Cantelmi G, Polito C, del Giudice EM, et al. Brain magnetic resonance in the routine management of Rubinstein-Taybi syndrome (RTS) can prevent lifethreatening events and neurological deficits. Am J Med Genet A. 2014;164A:2129–32.PubMedCrossRef
24.
Rubinstein JH. Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957–1988. Am J Med Genet Suppl. 1990;6:3–16.PubMed
25.
Wojcik C, Volz K, Ranola M, Kitch K, Karim T, O’Neil J, et al. Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? Am J Med Genet A. 2010;152A:479–83.PubMedCrossRef
26.
Parsley L, Bellus G, Handler M, Tsai AC-H. Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx. Am J Med Genet A. 2011;155:2766–770.CrossRef
27.
Giussani C, Selicorni A, Fossati C, Ingelmo P, Canonico F, Landi A, et al. The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein–Taybi syndrome. Child Nerv Syst. 2012;28:2163–8.CrossRef
28.
Marzuillo Grandone A, Coppola R, Cozzolino D, Festa A, Messa F, Luongo C, et al. Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. BMC Medical Genetics. 2013;14:28.CrossRef
29.
30.
Agarwal R, Aggarwal R, Kabra M, Deorari AK. Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association. Clin Dysmorphol. 2002;11(3):223–4.PubMedCrossRef
31.
Tanaka T, Ling BC, Rubinstein JH, Crone KR. Rubinstein-Taybi syndrome in children with tethered spinal cord. J Neurosurg. 2006;105(4 Suppl):261–4.PubMed
32.
Fischer S, Bäzner H, Henkes H. Cervical artery dissection in a young patient with Rubinstein-Taybi syndrome. Clin Neuroradiol. 2013;23:41–4.PubMedCrossRef
33.
Ishizaka S, Sou G, Morofuji Y, Hayashi K, Kitagawa N, Tateishi Y, et al. Dissecting aneurysm of the anterior cerebral artery with Rubinstein-Taybi syndrome--a case report. Brain Nerve. 2010;62:1083–8.PubMed
34.
Peñaranda A, Cerón M. Rubinstein-Taybi syndrome and mixed bilateral hypoacousia case report. Otol Neurotol. 2007;28:501–3.PubMedCrossRef
35.
Naimi DR, Munoz J, Rubinstein J, Hostoffer Jr RW. Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. Allergy Asthma Proc. 2006;27:281–4.PubMedCrossRef
36.
Torres LC, Sugayama SM, Arslanian C, Sales MM, Carneiro-Sampaio M. Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome. Braz J Med Biol Res. 2010;43:1215–24.PubMedCrossRef
37.
Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003;119A:101–10.PubMedCrossRef
38.
Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, et al. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008;146A:2512–9.PubMedCrossRef
39.
Marabotti A, Giannecchini G, Cariello A, Cappelli C, Giannecchini I, Bedei A. Stenosis of the lachrymal system in Rubinstein-Taybi syndrome. Ophthalmol. 2002;216:272–6.CrossRef
40.
Van Genderen MM, Kinds GF, Riemslag FCC, Hennekam RCM. Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. Br J Ophthalmol. 2000;84:1177–84.PubMedCentralPubMedCrossRef
41.
Kosaki R, Fujita H, Takada H, Okada M, Torii C, Kosaki K. Monozygotic twins of Rubinstein–Taybi syndrome discordant for glaucoma. Am J Med Genet A. 2011;155:1189–91.CrossRef
42.
Jacobs DJ, Sein J, Berrocal AM, Grajewski AL, Hodapp E. Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome. Clin Ophthalmol. 2012;6:1369–71.PubMedCentralPubMedCrossRef
43.
Hennekam RC, Stevens CA, Van de Kamp JJ. Etiology and recurrence risk in Rubinstein- Taybi syndrome. Am J Med Genet. 1990;6:56–64.
44.
Bloch-Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe D. Oro- dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. Am J Med Genet A. 2007;143:570–3.CrossRef
45.
Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet A. 1995;59:346–8.CrossRef
46.
Hanauer D, Argilla M, Wallerstein R. Rubinstein-Taybi syndrome and hypoplastic left heart. Am J Med Genet A. 2002;112:109–11.CrossRef
47.
Hennekam RCM. Rubinstein-Taybi syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes. 3rd ed. Hoboken, NJ: Wiley-Blackwell; 2010. p. 705–15.CrossRef
48.
Olson DP, Koenig RJ. Thyroid function in Rubinstein-Taybi syndrome. J Clin Endocrinol Metab. 1997;82:3264–6.PubMed
49.
Kurtoglu S, Akcakus M, Gunes T, Cetin N, Topaloglu N. Congenital hypothyroidism associated with Rubinstein-Taybi syndrome. J Pediatr Endocrinol Metab. 2003;16:457–9.PubMed
50.
Isidor B, Podevin G, Camby C, Mosnier J-F, Chauty A, Lyet J-M, et al. Rubinstein–Taybi syndrome and Hirschsprung disease in a patient harbouring an intragenic deletion of the CREBBP gene. Am J Med Genet A. 2010;152A:1847–8.PubMedCrossRef
51.
Zucconi M, Ferini-Strambi L, Erminio C, Pestalozza G, Smirne S. Obstructive sleep apnea in the Rubinstein-Taybi syndrome. Respiration. 1993;60:127–32.PubMedCrossRef
52.
53.
Bayle P, Bazex J, Lamant L, Lauque D, Durieu C, Albes B. Multiple perforating and non perforating pilomatricomas in a patient with Churg-Strauss syndrome and Rubinstein-Taybi syndrome. J Eur Acad Dermatol Venereol. 2004;18:607–10.PubMedCrossRef
54.
van de Kar AL, Houge G, Shaw AC, De Jong D, van Belzen MJ, Peters DJ, Hennekam RC. Keloids in Rubinstein-Taybi Syndrome: a clinical study. Br J Dermatol. 2014 doi:10.1111/bjd.13124.
55.
Siraganian PA, Rubinstein JH, Miller RW. Keloids and neoplasms in the Rubinstein-Taybi syndrome. Med Pediatr Oncol. 1989;17:485–91.PubMedCrossRef
56.
de Kort E, Conneman N, Diderich K. A case of Rubinstein-Taybi syndrome and congenital neuroblastoma. Am J Med Genet A. 2014;164A:1332–3.PubMedCrossRef
57.
58.
Ihara K, Kuromaru R, Takemoto M, Hara T. Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche. Am J Med Genet A. 1999;83:365–6.CrossRef
59.
Roelfsema JH, Peters DJ. Rubinstein–Taybi syndrome: clinical and molecular overview. Expert Rev Mol Med. 2007;9:1–16.PubMedCrossRef
60.
Bourdeaut F, Miquel C, Richer W, Grill J, Zerah M, Grison C, et al. Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma. Pediatr Blood Cancer. 2014;61:383–6.PubMedCrossRef
61.
Evans G, Burnell L, Campbell R, Gattamaneni HR, Birch J. Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma. Med Pediatr Oncol. 1993;21:433–4.PubMedCrossRef
62.
Skousen GJ, Wardinsky T, Chenaille P. Medulloblastoma in patient with Rubinstein–Taybi syndrome. Am J Med Genet A. 1996;66:367.CrossRef
63.
Taylor MD, Mainprize TG, Rutka JT, Becker L, Bayani J, Drake JM. Medulloblastoma in a child with Rubenstein–Taybi syndrome: Case report and review of the literature. Pediatr Neurosurg. 2001;35:235–8.PubMedCrossRef
64.
Hennekam RC, Baselier AC, Beyaert E, Bos A, Blok JB, Jansma HB, et al. Psychological and speech studies in Rubinstein-Taybi syndrome. Am J Ment Retard. 1992;96:645–60.PubMed
65.
Yagihashi T, Kosaki K, Okamoto N, Mizuno S, Kurosawa K, Takahashi T, et al. Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome. Congenit Anom. 2012;52:82–6.CrossRef
66.
Galéra C, Taupiac E, Fraisse S, Naudion S, Toussaint E, Rooryck-Thambo C, et al. Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. J Autism Dev Disord. 2009;39:1252–60.PubMedCrossRef
67.
Bartsch O, Locher K, Meinecke P, Kress W, Seemanová E, Wagner A, et al. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J Med Genet. 2002;39:496–501.PubMedCentralPubMedCrossRef
68.
Wieczorek D, Bartsch O, Lechno S, Kohlhase J, Peters DJ, Dauwerse H, et al. Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers. Am J Med Genet A. 2009;149A:2849–854.PubMedCrossRef
69.
Stevens CA, Pouncey J, Knowles D. Adults with Rubinstein–Taybi syndrome. Am J Med Genet A. 2011;155:1680–4.CrossRef
70.
71.
Schrander-Stumpel CTRM, Williams MS. Adult dysmorphology. Seminars in medical genetics. Am J Med Genet C. 2007;145:321.
72.
Nakai K, Yoneda K, Moriue T, Kubota Y. Striate palmoplantar keratoderma in a patient with Rubinstein–Taybi syndrome. J Eur Acad Dermatol Venereol. 2009;23:333–5.PubMedCrossRef
73.
Levitas AS, Reid CS. Rubinstein-Taybi syndrome and psychiatric disorders. J Intellect Disabil Res. 1998;42:284–92.PubMedCrossRef
74.
Li C, Szybowska M. A novel mutation c.4003 G > C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features. Am J Med Genet A. 2010;152A:2939–41.PubMedCrossRef
75.
Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, et al. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet. 2000;37:168–76.PubMedCentralPubMedCrossRef
76.
Stef M, Simon D, Mardirossian B, Delrue MA, Burgelin I, Hubert C, et al. Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. Eur J Hum Genet. 2007;15:843–7.PubMedCrossRef
77.
Bartsch O, Schmidt S, Richter M, Morlot S, Seemanová E, Wiebe G, et al. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005;117:485–93.PubMedCrossRef
78.
Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanová E, et al. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. 2006;120:179–86.PubMedCrossRef
79.
Lai AHM, Brett MS, Chin WH, Lim ECP, Ng JSH, Tan EC. A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein–Taybi syndrome. Gene. 2012;499:182–5.PubMedCrossRef
80.
Calì F, Failla P, Chiavetta V, Ragalmuto A, Ruggeri G, Schinocca P, et al. Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome. Genetics and Molecular Research. 2013;12(3):2809–15.PubMed
81.
Gervasini C, Castronovo P, Bentivegna A, Mottadelli F, Faravelli F, Giovannucci-Uzielli ML, et al. High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. Genomics. 2007;90:567–73.PubMedCrossRef
82.
Chiang PW, Lee NC, Chien N, Hwu WL, Spector E, Tsai AC. Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am J Med Genet A. 2009;149A:1463–67.PubMedCrossRef
83.
Foley P, Bunyan D, Stratton J, Dillon M, Lynch SA. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. Am J Med Genet A. 2009;149A:997–1000.PubMedCrossRef
84.
85.
Verma IC. Rubinstein Taybi syndrome. Case report. Indian Pediatr. 1970;7:672–4.PubMed
86.
Cotsirilos P, Taylor JC, Matalon R. Dominant inheritance of a syndrome similar to Rubinstein-Taybi. Am J Med Genet A. 1987;26:85–93.CrossRef
87.
Hennekam RC, Lommen EJ, Strengers JL, Van Spijker HG, Jansen-Kokx TM. Rubinstein-Taybi syndrome in a mother and son. Eur J Pediatr. 1989;14:439–41.CrossRef
88.
Marion RW, Garcia DM, Karasik JB. Apparent dominant transmission of the Rubinstein-Taybi syndrome. Am J Med Genet A. 1993;46:284–7.CrossRef
89.
Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U. Inheritance and variable expression in Rubinstein–Taybi syndrome. Am J Med Genet A. 2010;152A:2254–61.PubMedCrossRef
90.
Shim JH, Greenblatt MB, Singh A, Brady N, Hu D, Drapp R, et al. Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome-like skeletal defects induced by Pdk1 or Cbp mutations in mice. Journal of Clin Invest. 2012;122:91–106.CrossRef
91.
Park E, Kim Y, Ryu H, Kowall NW, Lee J, Ryu H. Epigenetic Mechanisms of Rubinstein–Taybi Syndrome. Neuromol Med. 2014;16:16–24.CrossRef
92.
Milani D, Pezzani L, Negri G, Gervasini C, Esposito S. The potential impact of fetal genotype on maternal blood pressure during pregnancy: the example of EP300. J Hypertens. in press.
Metadata
Title
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
Authors
Donatella Milani
Francesca Maria Paola Manzoni
Lidia Pezzani
Paola Ajmone
Cristina Gervasini
Francesca Menni
Susanna Esposito
Publication date
01-12-2015
Publisher
BioMed Central
Published in
Italian Journal of Pediatrics / Issue 1/2015
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/s13052-015-0110-1

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