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Clinical Genetics

  1. In this study, we used the novel DeepGestalt technology powered by Face2Gene (FDNA Inc., MA, USA) in suggesting a correct diagnosis based on the facial gestalt of well-known multiple anomaly syndromes. Only mo...

    Authors: Giulia Pascolini, Mauro Calvani and Paola Grammatico
    Citation: Italian Journal of Pediatrics 2022 48:91
  2. The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosom...

    Authors: Reinaldo Luna de Omena Filho, Reginaldo José Petroli, Fernanda Caroline Soardi, Débora de Paula Michelatto, Taís Nitsch Mazzola, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Susane Vasconcelos Zanotti, Ida Cristina Gubert and Isabella Monlleo
    Citation: Italian Journal of Pediatrics 2022 48:89
  3. Limping and/or refusal to walk is a common complaint in the setting of the pediatric department, with a widely diverse differential diagnosis. An unusual etiology, is that of a hereditary neuropathy.

    Authors: Shani Karklinsky, Shir Kugler, Omer Bar-Yosef, Andreea Nissenkorn, Anat Grossman-Jonish, Irit Tirosh, Asaf Vivante and Ben Pode-Shakked
    Citation: Italian Journal of Pediatrics 2022 48:84
  4. Wolf-Hirschhorn syndrome (WHS) is a well-defined disorder, whose core phenotype encompasses growth restriction, facial gestalt, intellectual disability and seizures. Nevertheless, great phenotypic variability ...

    Authors: Luisa Cortellazzo Wiel, Irene Bruno, Egidio Barbi and Fabio Sirchia
    Citation: Italian Journal of Pediatrics 2022 48:72
  5. Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of diso...

    Authors: Roberta Rotunno, Andrea Diociaiuti, Elisa Pisaneschi, Claudia Carnevale, Marialisa Dentici and May El Hachem
    Citation: Italian Journal of Pediatrics 2022 48:71
  6. Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is...

    Authors: Gregorio Serra, Sofia Felice, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Ettore Piro and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:65
  7. In recent years, reports of refractory Mycoplasma pneumoniae pneumonia (RMPP) have gradually increased, including reports on how these conditions threaten the lives of children. However, the specific mechanism of...

    Authors: Yujie Fan, Ying Ding, Yuqin Li, Dandan Zhang, Min Yu, Wei-fang Zhou and Xiaoxing Kong
    Citation: Italian Journal of Pediatrics 2022 48:64
  8. Over 100 mutations in the SRD5A2 gene have been identified in subjects with 46,XY disorder of sex development (DSD). Exploration of SRD5A2 mutations and elucidation of the molecular mechanisms behind their effect...

    Authors: Liwei Li, Junhong Zhang, Qing Li, Li Qiao, Pengcheng Li, Yi Cui, Shujun Li, Shirui Hao, Tongqian Wu, Lili Liu, Jianmin Yin, Pingsheng Hu, Xiaowei Dou, Shuping Li and Hui Yang
    Citation: Italian Journal of Pediatrics 2022 48:47
  9. Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. In the very few ...

    Authors: Lucia Santoro, Dorina Pjetraj, Virtut Velmishi, Carmen Campana, Carlo Catassi, Carlo Dionisi-Vici and Arianna Maiorana
    Citation: Italian Journal of Pediatrics 2022 48:39
  10. Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addit...

    Authors: Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:38
  11. Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. However...

    Authors: Marcello Scala, Midas Anijs, Roberta Battini, Francesca Madia, Valeria Capra, Paolo Scudieri, Alberto Verrotti, Federico Zara, Carlo Minetti, Sonja C. Vernes and Pasquale Striano
    Citation: Italian Journal of Pediatrics 2021 47:208
  12. Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is ...

    Authors: Gregorio Serra, Vincenzo Antona, Mario Giuffré, Federica Li Pomi, Lucia Lo Scalzo, Ettore Piro, Ingrid Anne Mandy Schierz and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2021 47:196
  13. 15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, ...

    Authors: Yahya Benbouchta, Nicole De Leeuw, Saadia Amasdl, Aziza Sbiti, Dominique Smeets, Khalid Sadki and Abdelaziz Sefiani
    Citation: Italian Journal of Pediatrics 2021 47:188
  14. Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive neonatal progeroid disorder characterized by prenatal and postnatal growth retardation, short stature, a progeroid appearance, hypotonia, an...

    Authors: Shao-Wen Wu, Lin Li, Fan Feng, Li Wang, Yuan-Yuan Kong, Xiao-Wei Liu and Chenghong Yin
    Citation: Italian Journal of Pediatrics 2021 47:160
  15. Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder that results in hypoketotic hypoglycemia and hepatic encephalopathy. It is caused by mutation in CP...

    Authors: Yi Gan, Fei Yu and Haining Fang
    Citation: Italian Journal of Pediatrics 2021 47:154

    The Correction to this article has been published in Italian Journal of Pediatrics 2021 47:192

  16. White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, ...

    Authors: Bernadette Donnarumma, Maria Pia Riccio, Gaetano Terrone, Melania Palma, Pietro Strisciuglio and Iris Scala
    Citation: Italian Journal of Pediatrics 2021 47:148
  17. In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited...

    Authors: Gregorio Serra, Luigi Memo, Vincenzo Antona, Giovanni Corsello, Valentina Favero, Paola Lago and Mario Giuffrè
    Citation: Italian Journal of Pediatrics 2021 47:147
  18. Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia,...

    Authors: Gregorio Serra, Vincenzo Antona, Maria Michela D’Alessandro, Maria Cristina Maggio, Vincenzo Verde and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2021 47:138
  19. Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED is char...

    Authors: Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffrè and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2021 47:128
  20. Fetal alcohol spectrum disorders (FASD) is a group of conditions resulting from prenatal alcohol exposure (PAE). Patients with FASD experience a variety of neuropsychological symptoms resulting from central ne...

    Authors: Katarzyna Anna Dylag, Bożena Bando, Zbigniew Baran, Paulina Dumnicka, Katarzyna Kowalska, Paulina Kulaga, Katarzyna Przybyszewska, Jakub Radlinski, Sylvia Roozen and Leopold Curfs
    Citation: Italian Journal of Pediatrics 2021 47:113
  21. Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in deve...

    Authors: Gregorio Serra, Luigi Memo, Alessandra Coscia, Mario Giuffré, Ambra Iuculano, Mariano Lanna, Diletta Valentini, Anna Contardi, Sauro Filippeschi, Tiziana Frusca, Fabio Mosca, Luca A. Ramenghi, Corrado Romano, Annalisa Scopinaro, Alberto Villani, Giuseppe Zampino…
    Citation: Italian Journal of Pediatrics 2021 47:94
  22. De novo pathogenic variants in the DDX3X gene are reported to account for 1–3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). B...

    Authors: Giada Moresco, Jole Costanza, Carlo Santaniello, Ornella Rondinone, Federico Grilli, Elisabetta Prada, Simona Orcesi, Ilaria Coro, Anna Pichiecchio, Paola Marchisio, Monica Miozzo, Laura Fontana and Donatella Milani
    Citation: Italian Journal of Pediatrics 2021 47:81
  23. Ventricular septal defects (VSDs) are malformations in the septum separating the heart’s ventricles. VSDs may present as a single anomaly (isolated/nonsyndromic VSD) or as part of a group of phenotypes (syndromic

    Authors: Sumbal Sarwar, Farah Ehsan, Shabana, Amna Tahir, Mahrukh Jamil, Saleem Ullah Shahid, Asim Khan and Shahida Hasnain
    Citation: Italian Journal of Pediatrics 2021 47:70
  24. Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence: < 1/1000000) which clinically manifests in early infancy.

    Authors: Francesco Martino, Alessandra Magenta, Maria Letizia Troccoli, Eliana Martino, Concetta Torromeo, Carolina Putotto and Francesco Barillà
    Citation: Italian Journal of Pediatrics 2021 47:54
  25. 22q11.2 deletion syndrome is one of the most common genomic disorders, characterized by the variable presence of facial dysmorphisms, congenital cardiac defects, velopharyngeal insufficiency/cleft palate, thym...

    Authors: Erica Rosina, Berardo Rinaldi, Rosamaria Silipigni, Luca Bergamaschi, Giovanna Gattuso, Stefano Signoroni, Silvana Guerneri, Alessandra Carnevali, Paola Giovanna Marchisio and Donatella Milani
    Citation: Italian Journal of Pediatrics 2021 47:31

    The Correction to this article has been published in Italian Journal of Pediatrics 2021 47:185

  26. Growth monitoring is an essential part of primary health care in children and short stature is frequently regarded as a relatively early sign of poor health. The association of short stature and dysmorphic fea...

    Authors: Davide Mattei, Paolo Cavarzere, Rossella Gaudino, Franco Antoniazzi and Giorgio Piacentini
    Citation: Italian Journal of Pediatrics 2021 47:15
  27. Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease associated with severe muscle atrophy and weakness in the limbs and trunk. The discovery of mutated genes is helpful in diagnosis and ...

    Authors: Ruiping Zhang, Chunyu Gu, Linjie Pu, Yingtao Meng, Jianbo Shu and Chunquan Cai
    Citation: Italian Journal of Pediatrics 2020 46:166
  28. Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose...

    Authors: Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Antona, Maria Pia Pappalardo, Mario Giuffrè, Gregorio Serra and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2020 46:136
  29. Aplasia cutis congenita (ACC) is a rare congenital condition characterized by the absence of skin layers and sometimes other underlying structures, in a localized or widespread area. The exact etiopathogenesis...

    Authors: Francisco Cammarata-Scalisi, Andrea Diociaiuti, Blanca de Guerrero, Colin Eric Willoughby and Michele Callea
    Citation: Italian Journal of Pediatrics 2020 46:120
  30. Growth failure and growth hormone deficiency (GHD) have been reported as one accessory feature of GLUT1 deficiency syndrome (GLUT1DS), considered so far as a long-term adverse effects of ketogenic diet which i...

    Authors: Gianluca Tornese, Giuseppa Patti, Maria Chiara Pellegrin, Paola Costa, Flavio Faletra, Elena Faleschini and Egidio Barbi
    Citation: Italian Journal of Pediatrics 2020 46:119
  31. Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are ...

    Authors: Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne and Maria Piccione
    Citation: Italian Journal of Pediatrics 2020 46:108
  32. MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism. Both the MED13L h...

    Authors: Zhi Yi, Ying Zhang, Zhenfeng Song, Hong Pan, Chengqing Yang, Fei Li, Jiao Xue and Zhenghai Qu
    Citation: Italian Journal of Pediatrics 2020 46:95
  33. Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condit...

    Authors: Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti…
    Citation: Italian Journal of Pediatrics 2020 46:92
  34. Cerebral palsy (CP) is a non-progressive disorder of movement and posture due to a static insult to the brain. In CP, the depth of investigation is guided by the patients’ medical history and their clinical ex...

    Authors: Liqin Hu, Xiaoqin Xin, Shaobin Lin, Min Luo, Junkun Chen, Hongsheng Qiu, Li Ma and Jungao Huang
    Citation: Italian Journal of Pediatrics 2020 46:88
  35. Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, usually at the lateral side of the most active growth plate of a long bone. These les...

    Authors: Andrea Trombetta, Vanessa Migliarino, Flavio Faletra, Egidio Barbi and Gianluca Tornese
    Citation: Italian Journal of Pediatrics 2020 46:81
  36. Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal ab...

    Authors: Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella and Nenad Bukvic
    Citation: Italian Journal of Pediatrics 2020 46:74
  37. Coarctation of the aorta (CoA), presenting with local stenosis of the aorta is involved in many cardiovascular processes. However, there has been little research on the mechanism of coarctation of the aorta.

    Authors: Siyu Ma, Junqiang Zheng, Yang Xu, Zhaocong Yang, Yu Zhu, Xiaoqi Su and Xuming Mo
    Citation: Italian Journal of Pediatrics 2020 46:63
  38. Atrioventricular canal defect (AVCD) represents a quite common congenital heart defect (CHD) accounting for 7.4% of all cardiac malformations. AVCD is a very heterogeneous malformation that can occur as a phen...

    Authors: Flaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, Enrica De Luca, Bruno Marino and Paolo Versacci
    Citation: Italian Journal of Pediatrics 2020 46:61
  39. Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the association between all these peculiar features and neurofi...

    Authors: Silvia Vannelli, Raffaele Buganza, Federica Runfola, Ilaria Mussinatto, Antonio Andreacchio and Luisa de Sanctis
    Citation: Italian Journal of Pediatrics 2020 46:58
  40. Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder with variable clinical features and cancer predisposition. In this study, we aim to characterize the clinical features and molecular defects o...

    Authors: Ruixue Wang, Yongmei Xiao, Dan Li, Hui Hu, Xiaolu Li, Ting Ge, Ronghua Yu, Yizhong Wang and Ting Zhang
    Citation: Italian Journal of Pediatrics 2020 46:55
  41. Children with Down syndrome (DS) show a high susceptibility to recurrent infections (RI), caused by immune defects and abnormalities of the airways. Our goal was to investigate the effects of Pidotimod on RI p...

    Authors: Diletta Valentini, Chiara Di Camillo, Nadia Mirante, Valentina Marcellini, Rita Carsetti and Alberto Villani
    Citation: Italian Journal of Pediatrics 2020 46:31
  42. Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhy...

    Authors: Itaru Hayakawa, Yuichi Abe, Hiroshi Ono and Masaya Kubota
    Citation: Italian Journal of Pediatrics 2019 45:165
  43. Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epileps...

    Authors: Piero Pavone, Giovanni. Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino and Raffaele Falsaperla
    Citation: Italian Journal of Pediatrics 2019 45:159
  44. Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvemen...

    Authors: Angelo Florio, Riccardo Papa, Roberta Caorsi, Alessandro Consolaro, Roberto Gastaldi, Marco Gattorno and Paolo Picco
    Citation: Italian Journal of Pediatrics 2019 45:148
  45. 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and ...

    Authors: Gregorio Serra, Vincenzo Antona, Giovanni Corsello, Federico Zara, Ettore Piro and Raffaele Falsaperla
    Citation: Italian Journal of Pediatrics 2019 45:138
  46. Procedural sedation is increasingly needed in pediatrics. Although different drugs or drugs association are available, which is the safest and most efficient has yet to be defined, especially in syndromic chil...

    Authors: Matteo Trevisan, Sara Romano, Egidio Barbi, Irene Bruno, Flora Maria Murru and Giorgio Cozzi
    Citation: Italian Journal of Pediatrics 2019 45:119
  47. Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung disease (ILD). Our objective was to characterize clinical and genetic spectrum of ILD in Chinese children associated with SFTPC mutat...

    Authors: Da Hong, Dan Dai, Jing Liu, Congcong Zhang, Tingting Jin, Yanyan Shi, Gaoli Jiang, Mei Mei, Libo Wang and Liling Qian
    Citation: Italian Journal of Pediatrics 2019 45:117
  48. Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be m...

    Authors: Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti…
    Citation: Italian Journal of Pediatrics 2019 45:72
  49. Filocamo et al. recently published a paper describing the presence of a pseudodeficiency allele, constituted by p.Ser141Ser and p.Arg737Gly polymorphisms at the NAGLU gene, which leads to a reduced level of the a...

    Authors: Diana Rojas Malaga, Sandra Leistner-Segal and Ana Carolina Brusius-Facchin
    Citation: Italian Journal of Pediatrics 2019 45:60