Khoshnood B, Greenlees R, Loane M, Dolk H. Paper 2: EUROCAT public health indicators for congenital anomalies in Europe. Birth Defects Res Part A - Clin Mol Teratol 2011; 91:S16-22. DOI:10.1002/bdra.20776
Kirby RS. The prevalence of selected major birth defects in the United States. Semin Perinatol 2017; 41:338-344. DOI:10.1053/j.semperi.2017.07.004
Pogue RE, Cavalcanti DP, Shanker S, Andrade RV, Aguiar LR, de Carvalho JL, et al. Rare genetic diseases: update on diagnosis, treatment and online resources. Drug Discov Today 2018; 23:187-195. DOI:10.1016/j. drudis.2017.11.002
von der Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med 2017; 5:758-773. DOI:10.1002/mgg3.315
Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, et al. Model organisms facilitate rare disease diagnosis and therapeutic research. Genetics 2017; 207:9-27. DOI:10.1534/genetics.117.203067
Taruscio D, Agresta L, Amato A, Bernardo G, Bernardo L, Braguti F, et al. The Italian National Centre for rare diseases: Where research and public health translate into action. Blood Transfus 2014; 12:s591-605. DOI:10.2450/2014.0040-14s
Traisman ES. Care of the child with special needs. Pediatr Ann 2015; 44:522-525. DOI:10.3928/00904481- 20151111-01
Lee CF, Lin SS. The adaptation experience in a case of family stress generated by the birth of premature triplets. Hu Li Za Zhi 2005; 52:33-39. DOI:10.1186/s12929-015- 0138-y
Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. Cornelia de Lange syndrome. Clin Genet 2015; 88:1-12. DOI:10.1111/cge.12499
Bhambhani V, Muenke M. Noonan syndrome. Am Fam Physician 2014; 89:37-43.
Jaeger G, Röjvik A, Berglund B. Participation in society for people with a rare diagnosis. Disabil Health J 2015; 8:44-50. DOI:10.1016/j.dhjo.2014.07.004
An M, Palisano RJ. Family-professional collaboration in pediatric rehabilitation: A practice model. Disabil Rehabil 2014; 36:434-440. DOI:10.3109/09638288.2013.797510
Palisano RJ, Chiarello LA, King GA, Novak I, Stoner T, Fiss A. Participation-based therapy for children with physical disabilities. Disabil Rehabil 2012; 34:1041-1052. DOI:10.3109/09638288.2011.628740
Garrino L, Picco E, Finiguerra I, Rossi D, Simone P, Roccatello D. Living with and treating rare dis-eases: Experiences of patients and professional health care providers. Qual Health Res 2015; 25:636-651. DOI:10.1177/1049732315570116
Lima VP de, Emerich DR, Mesquita MLG de, Paternez ACAC, Carreiro LRR, Pina Neto JM de, et al. Nutritional intervention with hypocaloric diet for weight control in children and adolescents with Prader-Willi Syndrome. Eat Behav 2016; 21:189-192. DOI:10.1016/j. eatbeh.2016.03.008
Hennekam RCM. Costello syndrome: An overview. Am J Med Genet 2003; 117C:42-48. DOI:10.1002/ ajmg.c.10019
Esposito S, Cerutti M, Milani D, Menni F, Principi N. Vaccination coverage of children with rare genetic diseases and attitudes of their parents toward vaccines. Hum Vaccines Immunother 2016; 12:801-805. DOI:10.1080/2 1645515.2015.1086046
Jones KL, Adam MP. Evaluation and Diagnosis of the Dysmorphic Infant. Clin Perinatol 2015; 42:243-261. DOI:10.1016/j.clp.2015.02.002
Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC. Elements of morphology: General terms for congenital anomalies. Am J Med Genet Part A 2013; 161:2726-2733. DOI:10.1002/ajmg.a.36249
Esmer C, Urraca N, Carnevale A, Del Castillo V. Patient follow-up is a major problem at genetics clinics. Am J Med Genet 2004; 125:162-6. DOI:10.1002/ajmg.a.20303
Coughlin L. AAP releases guidelines on clinical evaluation of the child with mental retardation or developmental delays. Am Fam Physician 2007; 75:414-417. DOI:10.1542/ peds.2006-1006
Turchetta R, Conti G, Marsella P, Orlando MP, Picciotti PM, Frezza S, et al. Universal newborn hearing screening in the Lazio region, Italy. Ital J Pediatr 2018; 44:104. DOI:10.1186/s13052-018-0534-5
Ralli M, Greco A, Altissimi G, Tagliaferri N, Carchiolo L, Turchetta R, et al. Hyperacusis in children: A preliminary study on the effects of hypersensitivity to sound on speech and language. Int Tinnitus J 2018; 22:10-18. DOI:10.5935/0946-5448.20180002
Greco A, De Virgilio A, Rizzo MI, Tombolini M, Gallo A, Fusconi M, et al. Kawasaki disease: An evolving paradigm. Autoimmun Rev 2015; 14:703-709. DOI:10.1016/j. autrev.2015.04.002
Ralli M, Rolesi R, Anzivino R, Turchetta R, Fetoni AR. Acquired sensorineural hearing loss in children: current research and therapeutic perspectives. Acta Otorhinolaryngol Ital 2017; 37:500-508. DOI:10.14639/0392- 100X-1574
Mittal V. Family-centered rounds. Pediatr Clin North Am 2014; 61:663-670. DOI:10.1016/j.pcl.2014.04.003
Setó-Salvia N, Stanier P. Genetics of cleft lip and/or cleft palate: Association with other common anomalies. Eur J Med Genet 2014; 57:381-393. DOI:10.1016/j. ejmg.2014.04.003
Graber E, Rapaport R. Growth and growth disorders in children and adolescents. Pediatr Ann 2012; 41:e65-e72. DOI:10.3928/00904481-20120307-07
Cole TRP. Sotos syndrome. Manag Genet Syndr Third Ed 2010; 2:769-786. DOI:10.1002/9780470893159.ch51
Katz DM, Bird A, Coenraads M, Gray SJ, Menon DU, Philpot BD, et al. Rett syndrome: Crossing the threshold to clinical translation. Trends Neurosci 2016; 39:100-113. DOI:10.1016/j.tins.2015.12.008
Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman syndrome. Neurotherapeutics 2015; 12:641-650. DOI:10.1007/s13311-015-0361-y
Memo L, Gnoato E, Caminiti S, Pichini S, Tarani L. Fetal alcohol spectrum disorders and fetal alcohol syndrome: the state of the art and new diagnostic tools. Early Hum Dev 2013; 89 (Suppl 1):S40-43. DOI:10.1016/S0378- 378213;70013-6
Reiss AL. Childhood developmental disorders: An academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics. J Child Psychol Psychiatry Allied Discip 2009; 50:87-98. DOI:10.1111/ j.1469-7610.2008.02046.x
Practice Bulletin No. 124. Obstet Gynecol 2011; 118:730- 740. DOI:10.1097/AOG.0b013e3182310c6f
Pober BR. Williams-Beuren syndrome. N Engl J Med 2010; 362:239-252. DOI:10.1056/NEJMra0903074
Cheon CK, Ko JM. Kabuki syndrome: Clinical and molecular characteristics. Korean J Pediatr 2015; 58:317-324. DOI:10.3345/kjp.2015.58.9.317
Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, et al. CHARGE syndrome: A review. J Paediatr Child Health 2014; 50:504-511. DOI:10.1111/jpc.12497
Bitterman AD, Sponseller PD. Marfan syndrome: A clinical update. J Am Acad Orthop Surg 2017; 25:603-609. DOI:10.5435/JAAOS-D-16-00143
Das S, Munshi A. Research advances in Apert syndrome. J Oral Biol Craniofacial Res 2018; 8:194-199. DOI:10.1016/j.jobcr.2017.05.006
FRACS CGK. Bardet-Biedl Syndrome. Aust J Opthalmology 1984; 12:143-148. DOI:10.1111/j.1442-9071.1984. tb01143.x
Al-Namnam NM, Hariri F, Thong MK, Rahman ZA. Crouzon syndrome: Genetic and intervention review. J Oral Biol Craniofacial Res 2019; 9:37-39. DOI:10.1016/j. jobcr.2018.08.007
Milani D, Manzoni FMP, Pezzani L, Ajmone P, Gervasini C, Menni F, et al. Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management. Ital J Pediatr 2015; 41:4. DOI:10.1186/s13052-015-0110-1
Espirito Santo LD, Moreira LMA, Riegel M. Cri-Du- Chat syndrome: Clinical profile and chromosomal microarray analysis in six patients. Biomed Res Int 2016; 2016:5467083. DOI:10.1155/2016/5467083
Binder G, Begemann M, Eggermann T, Kannenberg K. Silver-Russell syndrome. Best Pract Res Clin Endocrinol Metab 2011; 25:153-160. DOI:10.1016/j. beem.2010.06.005
Srinath S. Treacher collins syndrome. J Pharm Sci Res 2014; 6:247-250. DOI:10.1055/s-0032-1320066
Wieczorek AD. Wolf-Hirschhorn syndrome. In: MP Adam, HH. Ardinger, RA Pagon, SE Wallace, LJH Bean, K Stephens, A Amemiya, editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2018.
Bogusiak K, Puch A, Arkuszewski P. Goldenhar syndrome: current perspectives. World J Pediatr 2017; 13:405-415. DOI:10.1007/s12519-017-0048-z
Solomon BD. VACTERL/VATER association. Orphanet J Rare Dis 2011; 6:56. DOI:10.1186/1750-1172-6-56
Goldfarb CA, Wall LB. Holt-Oram syndrome. J Hand Surg Am 2014; 39:1646-1648. DOI:10.1016/j.jhsa.2014.02.015
Ornitz DM, Legeai-Mallet L. Achondroplasia: Development, pathogenesis, and therapy. Dev Dyn 2017; 246:291-309. DOI:10.1002/dvdy.24479
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS, et al. 22Q11.2 Deletion syndrome. Nat Rev Dis Prim 2015; 1:15071. DOI:10.1038/nrdp.2015.71
Korf BR. Neurofibromatosis. Handb Clin Neurol 2013; 111:333-340. DOI:10.1016/B978-0-444-52891-9.00039-7
Basel D, McCarrier J. Ending a diagnostic Odyssey: Family education, counseling, and response to eventual diagnosis. Pediatr Clin North Am 2017; 64:265-272. DOI:10.1016/j.pcl.2016.08.017
Castellanos JG, Walker M, Poggio D, Pourkashanian M, Nimmo W. Modelling an off-grid integrated renewable energy system for rural electrification in India using photovoltaics and anaerobic digestion. Renew Energy 2015; 74:390-398. DOI:10.1016/j.renene.2014.08.055
Vervloessem D, van Leersum F, Boer D, Hop WCJ, Escher JC, Madern GC, et al. Percutaneous endoscopic gastrostomy (PEG) in children is not a minor procedure: risk factors for major complications. Semin Pediatr Surg 2009; 18:93-97. DOI:10.1053/j.sempedsurg.2009.02.006
Al-Samri M, Mitchell I, Drummond DS, Bjornson C. Tracheostomy in children: A population-based experience over 17 years. Pediatr Pulmonol 2010; 45:487-493. DOI:10.1002/ppul.21206
van Goudoever JB, Carnielli V, Darmaun D, Sainz de Pipaon M, Braegger C, Bronsky J, et al. ESPGHAN/ ESPEN/ESPR guidelines on pediatric parenteral nutrition: Amino acids. Clin Nutr 2018; 37:2309-2314. DOI:10.1016/j.clnu.2018.06.945
Leaf AA. Vitamins for babies and young children. Arch Dis Child 2007; 92:160-164. DOI:10.1136/adc.2006.109066
Hoban TF. Sleep disorders in children. Contin Lifelong Learn Neurol 2013; 19:185-198. DOI:10.1212/01. CON.0000427206.75435.0e
McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children`s hospital. Am J Hum Genet 2004; 74:121-127. DOI:10.1086/381053
Joseph AW, Joseph SS, Francomano CA, Kontis TC. Characteristics, diagnosis, and management of Ehlers- Danlos syndromes: A review. JAMA Facial Plast Surg 2018; 20:70-75. DOI:10.1001/jamafacial.2017.0793
Email this article (Login required) 
