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Clinical Genetics

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  1. congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral,...

    Authors: Ester Capecchi, Roberta Villa, Alessandro Pini, Maria Iascone, Laura Messina, Paola Francesca Ajmone, Fabio Mosca, Silvana Gangi and Maria Francesca Bedeschi
    Citation: Italian Journal of Pediatrics 2024 50:94
  2. we aim to discuss the origin and the differences of the phenotypic features and the management care of rare form of disorder of sex development due to Mosaic monosomy X and Y chromosome materiel.

    Authors: Myriam Ben Fredj, Marwa Messaoud, Sabrine Ben Youssef, Salma Mani, Syrine Laaribi, Rania Sakka, Hayet Ben Hmida, Amine Ksiaa, Mongi Mekki, Mohsen Belghith and Lassaad Sahnoun
    Citation: Italian Journal of Pediatrics 2024 50:93
  3. Persistent airway inflammation is a central feature of bronchiectasis. Arachidonate 15-lipoxygenase (ALOX-15) controls production of endogenous lipid mediators, including lipoxins that regulate airway inflamma...

    Authors: Mahitab Morsy Hussein, Eman Mahmoud Fouda, Yasmine Shehab, Enas Samir Nabih, Ahmed Mohamed Osman and Sally Raafat Ishak
    Citation: Italian Journal of Pediatrics 2024 50:90
  4. Steroid-resistant nephrotic syndrome (SRNS) are monogenic in some cases, however, there are still no clear guidelines on genetic testing in the clinical practice of SRNS in children.

    Authors: Xueting Cheng, Jiahuan Chen, Xueying Yang, Han Chan, Xia Yang, Jia Jiao, Anshuo Wang, Gaofu Zhang, Xuelan Chen, Xiaoqin Li, Mo Wang, Baohui Yang, Haiping Yang and Qiu Li
    Citation: Italian Journal of Pediatrics 2024 50:85
  5. The variants of nucleoporins are extremely rare in hereditary steroid-resistant nephrotic syndrome (SRNS). Most of the patients carrying such variants progress to end stage kidney disease (ESKD) in their child...

    Authors: Yanxinli Han, Hongyu Sha, Yuan Yang, Zhuowei Yu, Lanqi Zhou, Yi Wang, Fengjie Yang, Liru Qiu, Yu Zhang and Jianhua Zhou
    Citation: Italian Journal of Pediatrics 2024 50:81
  6. Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature. 

    Authors: Caterina Maria Rossetti, Giacomo D. Simonetti, Mario G. Bianchetti, Sebastiano A. G. Lava, Giorgio Treglia, Carlo Agostoni, Gregorio P. Milani and J. Peter de Winter
    Citation: Italian Journal of Pediatrics 2024 50:79
  7. Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma. Four major types are distinguishe...

    Authors: May El Hachem, Andrea Diociaiuti, Giovanna Zambruno, Tonia Samela, Francesca Ferretti, Claudia Carnevale, Renata Linertová, Christine Bodemer, Dédée F. Murrell and Damiano Abeni
    Citation: Italian Journal of Pediatrics 2024 50:76
  8. Atrial septal defect (ASD) is a common form of congenital heart disease. Although several genes related to ASD have been found, the genetic factors of ASD remain unclear. This study aimed to evaluate the corre...

    Authors: Ye Jin, Miao Zhao, Qiuzhe Guo, Wanyu Zhao, Min Lei, Yifei Zhang, Yunhan zhang, Yan Shen, Keqin Lin, Zhaoqing Yang, Jiayou Chu, Hao Sun and Zhiling Luo
    Citation: Italian Journal of Pediatrics 2024 50:62
  9. Delirium, a form of acute cerebral dysfunction, is a common complication of postoperative cardiac surgery in children. It is strongly associated with adverse outcomes, including prolonged hospitalization, incr...

    Authors: Maoling Fu, Quan Yuan, Qiaoyue Yang, Wenshuai Song, Yaqi Yu, Ying Luo, Xiaoju Xiong and Genzhen Yu
    Citation: Italian Journal of Pediatrics 2024 50:24
  10. Multiple Breath washout (MBW) represents an important tool to detect early a possible pulmonary exacerbation especially in Cystic Fibrosis (CF) disease. Lung clearance index (LCI) is the most commonly reported...

    Authors: Matteo De Marchis, Enza Montemitro, Alessandra Boni, Alessandra Federici, Daniele Di Giovanni, Luca Cristiani, Renato Cutrera and Alessandro G. Fiocchi
    Citation: Italian Journal of Pediatrics 2024 50:6
  11. Erythropoietic protoporphyria is a rare disorder which represents an important health problem in children, causing painful photosensitivity. Little is known on the correlation between genetic profile and clini...

    Authors: Cristina Tumminelli, Francesca Burlo, Serena Pastore, Giovanni Maria Severini, Irene Berti, Stefano Marchini, Davide Zanon, Eleonora De Martino and Alberto Tommasini
    Citation: Italian Journal of Pediatrics 2023 49:156
  12. Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of affected patients is well established, i...

    Authors: Pierandrea Elefante, Beatrice Spedicati, Flavio Faletra, Laura Pignata, Flavia Cerrato, Andrea Riccio, Egidio Barbi, Luigi Memo and Laura Travan
    Citation: Italian Journal of Pediatrics 2023 49:127
  13. We investigated changes in microR-29c and microR-146a expression in the serum of children with Mycoplasma pneumoniae pneumonia, analysed their relationship with inflammatory factors and disease severity, and eval...

    Authors: Jingcai Wang, Chunyan Guo, Lixin Yang, Peng Sun and Xiaoqing Jing
    Citation: Italian Journal of Pediatrics 2023 49:119
  14. Ataxia-telangiectasia (A-T) is a rare autosomal recessive DNA repair disorder, characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, recurrent sinopulmonary infections, radiat...

    Authors: Laura De Nardi, Marco Francesco Natale, Virginia Messia, Paolo Tomà, Fabrizio De Benedetti and Antonella Insalaco
    Citation: Italian Journal of Pediatrics 2023 49:111
  15. Ligneous Conjunctivitis (LC) is the most common clinical manifestation of Type I Plasminogen deficiency (T1PD; OMIM# 217090), and it is characterized by the formation of pseudomembranes (due to deposition of f...

    Authors: Filippo Maria Panfili, Paola Valente, Andrea Ficari, Fabiana Cortellessa, Davide Vecchio, Michaela Veronika Gonfiantini, Paola Sabrina Buonuomo, Giovanna Stefania Colafati, Emanuele Agolini, Maria Bartuli, Alessandra Claudia Modugno and Marina Macchiaiolo
    Citation: Italian Journal of Pediatrics 2023 49:101
  16. Basic motor competencies (BMC) play a vital role in child development and are a primary focus of physical education. However, there is a lack of research on BMC in preschool-aged children, making this study pa...

    Authors: Gaizka Legarra-Gorgoñon, Yesenia García-Alonso, Robinson Ramírez-Vélez, Blanca Erice-Echegaray, Mikel Izquierdo and Alicia M. Alonso-Martínez
    Citation: Italian Journal of Pediatrics 2023 49:97
  17. Chronic Granulomatous Disease (CGD) is a primary immunodeficiency that causes susceptibility to recurrent fungal and bacterial infections. The CYBB gene encodes gp91phox component of the Phagocytic Nicotinamide a...

    Authors: Irum Gul, Taj Ali Khan, Noor ul Akbar, Naila Gul, Rehman Ali and Shahid Niaz Khan
    Citation: Italian Journal of Pediatrics 2023 49:95
  18. Tracheal compression (TC) due to vascular anomalies is an uncommon, but potentially serious cause of chronic respiratory disease in childhood. Vascular slings are congenital malformations resulting from abnorm...

    Authors: Adele Corcione, Melissa Borrelli, Leonardo Radice, Oliviero Sacco, Michele Torre, Francesco Santoro, Gaetano Palma, Eleonora Acampora, Francesca Cillo, Pietro Salvati, Angelo Florio and Francesca Santamaria
    Citation: Italian Journal of Pediatrics 2023 49:92
  19. Down syndrome is a genetic disorder caused by trisomy of chromosome 21 and characterized by an increased risk of multiorgan involvement. In Down syndrome children, functional constipation and lower urinary tra...

    Authors: Roberta Onesimo, Cristiana Agazzi, Luca Massimi, Valentina Giorgio, Chiara Leoni, Giuseppe Zampino and Claudia Rendeli
    Citation: Italian Journal of Pediatrics 2023 49:89
  20. Sandplay therapy is a psychotherapeutic technique, based on the psychoanalytic theory of the unconscious. Nearly a century after it was developed, sandplay can now be applied for the initial diagnosis tools fo...

    Authors: Ying Ge, Jun Yu Huo, Hai Bo Yang, Jay L. Wenger, Jing Yi Yuan and Xiao Jie Sun
    Citation: Italian Journal of Pediatrics 2023 49:86
  21. Cornelia de Lange syndrome is a rare genetic disease with otolaryngological involvement. The classic phenotype is characterized by distinctive facial features, intellectual disability, growth delay, hirsutism,...

    Authors: Roberta Onesimo, Rita De Santis, Chiara Leoni, Mario Rigante, Marco Piastra, Elisabetta Sforza, Angelo Selicorni and Giuseppe Zampino
    Citation: Italian Journal of Pediatrics 2023 49:85
  22. Congenital dyserythropoietic anemias (CDAs) are a very rare and heterogeneous group of disorders characterized by ineffective erythropoiesis. CDA II is caused by mutations in the SEC23B gene. The most common muta...

    Authors: Arati Nandan Saptarshi, Rashmi K. Dongerdiye, Tejashree Anil More and Prabhakar S. Kedar
    Citation: Italian Journal of Pediatrics 2023 49:84
  23. Spinal muscular atrophy (SMA) could be classified as 5q and non-5q, based on the chromosomal location of causative genes. A rare form of non-5q SMA is an autosomal-recessive condition called spinal muscular at...

    Authors: Ali Najafi, Behnoosh Tasharrofi, Farshid Zandsalimi, Maryam Rasulinezhad, Masood Ghahvechi Akbari, Gholamreza Zamani, Mahmoud Reza Ashrafi and Morteza Heidari
    Citation: Italian Journal of Pediatrics 2023 49:64
  24. Tacrolimus is the backbone drug in kidney transplantation. Single nucleotide polymorphism of Multidrug resistant 1 gene can affect tacrolimus metabolism consequently it can affect tacrolimus trough level and i...

    Authors: Mai S Korkor, Tarek el-desoky, Youssef M Mosaad, Doaa M. Salah and Ayman Hammad
    Citation: Italian Journal of Pediatrics 2023 49:57
  25. To date, no studies on presepsin values in cord blood of term infants with risk factors for early-onset sepsis (EOS) are available, whereas only one study reported presepsin values in cord blood of preterm inf...

    Authors: Francesca Priolo, Luca Maggio, Simona Fattore, Marta Tedesco, Domenico Umberto De Rose, Alessandro Perri, Giorgia Prontera, Roberto Chioma, Annamaria Sbordone, Maria Letizia Patti and Giovanni Vento
    Citation: Italian Journal of Pediatrics 2023 49:35
  26. Abnormalities in position and/or branching of the aortic arch can lead to vascular rings that may cause narrowing of the tracheal lumen due to external compression, or constriction of the oesophagus, causing s...

    Authors: Federica Porcaro, Paolo Ciliberti, Francesca Petreschi, Aurelio Secinaro, Annalisa Allegorico, Antonella Coretti and Renato Cutrera
    Citation: Italian Journal of Pediatrics 2023 49:24
  27. Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and s...

    Authors: Gregorio Serra, Vincenzo Antona, Marcello Cimador, Giorgia Collodoro, Marco Guida, Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Verde, Mario Giuffrè and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2023 49:17
  28. Schimke immunoosseous dysplasia (SIOD) is an ultra-rare inherited disease affecting many organ systems. Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid resistant nephrotic syndrome are the ma...

    Authors: Jakub Zieg, Martin Bezdíčka, Michaela Němčíková, Miroslava Balaščáková, Martina Suková, Katalin Štěrbová, Karel Vondrák, Jiří Dušek and Anna Křepelová
    Citation: Italian Journal of Pediatrics 2023 49:11
  29. Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population, the genetic etiology being often involved. The aim of thi...

    Authors: Diana Miclea, Sergiu Osan, Simona Bucerzan, Delia Stefan, Radu Popp, Monica Mager, Maria Puiu, Cristian Zimbru, Adela Chirita-Emandi and Camelia Alkhzouz
    Citation: Italian Journal of Pediatrics 2022 48:207
  30. Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous fo...

    Authors: Gregorio Serra, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Giusy Morgante, Ettore Piro, Roberto Pirrello, Sergio Salerno, Ingrid Anne Mandy Schierz, Vincenzo Verde and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:206
  31. The spread of knowledge on the important implications of a diagnosis of genetic disease does not correspond to a sharing of the knowledge and equal rights of children.

    Authors: Federico Marchetti and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:202
  32. Hypophosphatemic rickets (HR) is a genetic disease of phosphate wasting that is characterized by defective bone mineralization. The most common cause of the disease is mutations in the phosphate regulating gen...

    Authors: Nahid Tavana, Tzer Hwu Ting, Kaitao Lai, Marina L. Kennerson and Karuppiah Thilakavathy
    Citation: Italian Journal of Pediatrics 2022 48:193
  33. Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions. Pompe disease is progr...

    Authors: Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang and Lulu Zhang
    Citation: Italian Journal of Pediatrics 2022 48:187
  34. Hao-Fountain syndrome is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay and, in some males patients, it has ...

    Authors: Nicola Zampieri, Rebecca Pulvirenti, Eleonora Pedrazzoli and Francesco Saverio Camoglio
    Citation: Italian Journal of Pediatrics 2022 48:182
  35. Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG, with an autosomal re...

    Authors: E. Lebredonchel, A. Riquet, D. Neut, F. Broly, G. Matthijs, A. Klein and F. Foulquier
    Citation: Italian Journal of Pediatrics 2022 48:178
  36. Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by deafness, branchiogenic malformations and renal abnormalities. Pathogenic variants in EYA1, SIX1 and SIX5 genes cause almost ha...

    Authors: Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina and Donatella Milani
    Citation: Italian Journal of Pediatrics 2022 48:177
  37. Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is p...

    Authors: Gregorio Serra, Clara Giambrone, Vincenzo Antona, Francesca Cardella, Maurizio Carta, Marcello Cimador, Giovanni Corsello, Mario Giuffrè, Vincenzo Insinga, Maria Cristina Maggio, Marco Pensabene, Ingrid Anne Mandy Schierz and Ettore Piro
    Citation: Italian Journal of Pediatrics 2022 48:170
  38. Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in the prenatal period. Our study aimed to present different cli...

    Authors: Serap Bilge, Gülen Gül Mert, Özlem Hergüner, Duygu Özcanyüz, Sevcan Tuğ Bozdoğan, Ömer Kaya and Cengiz Havalı
    Citation: Italian Journal of Pediatrics 2022 48:169
  39. CHARGE syndrome (CS) is an autosomal dominant genetic condition whose recognition in the neonatal period is complicated by considerable phenotypic variability. Pediatric patients with genetic disorders have a ...

    Authors: Alessandra Consales, Beatrice Letizia Crippa, Lorenzo Colombo, Roberta Villa, Francesca Menni, Claudia Giavoli, Fabio Mosca and Maria Francesca Bedeschi
    Citation: Italian Journal of Pediatrics 2022 48:154
  40. Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second ...

    Authors: Francesca Mercadante, Ettore Piro, Martina Busè, Emanuela Salzano, Arturo Ferrara, Gregorio Serra, Cristina Passarello, Giovanni Corsello and Maria Piccione
    Citation: Italian Journal of Pediatrics 2022 48:152
  41. Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overal...

    Authors: Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:145
  42. Cystic fibrosis (CF) is the most common inherited disease in Caucasian populations, affecting around 50,000 patients in Europe and 30,000 in United States. A mutation in CF trans-membrane conductance regulator (C...

    Authors: Vito Terlizzi, Chiara Castellani, Giovanni Taccetti and Beatrice Ferrari
    Citation: Italian Journal of Pediatrics 2022 48:141
  43. Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1...

    Authors: Gregorio Serra, Vincenzo Antona, Chiara Cannata, Mario Giuffrè, Ettore Piro, Ingrid Anne Mandy Schierz and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:133
  44. Ventricular septal defects (VSDs) are one of the leading causes of death due to cardiac anomalies during the first months of life. The prevalence of VSD in neonates is reported up to 4%. Despite the remarkable...

    Authors: Sumbal Sarwar, Shabana, Amna Tahir, Zainab Liaqat, Saher Naseer, Rani Summeya Seme, Sabahat Mehmood, Saleem Ullah Shahid and Shahida Hasnain
    Citation: Italian Journal of Pediatrics 2022 48:124
  45. Albright’s hereditary osteodystrophy (AHO) is an inherited disorder which is caused by an inactivating variant in the GNAS gene. AHO appears associated to either pseudohypoparathyroidism 1a (PHP1a) when GNAS gene...

    Authors: Qing Zhou, Bin Liang, Qing-Xian Fu, Hui Liu and Chao-Chun Zou
    Citation: Italian Journal of Pediatrics 2022 48:123
  46. Prader-Willi syndrome (PWS) is a complex disorder caused by impaired paternally expressed genes on chromosome 15q11-q13. Variable findings have been reported about the phenotypic differences among PWS genetic ...

    Authors: Lu Zhang, Xiaoliang Liu, Yunjing Zhao, Qingyi Wang, Yuanyuan Zhang, Haiming Gao, Bijun Zhang, Wanting Cui and Yanyan Zhao
    Citation: Italian Journal of Pediatrics 2022 48:121
  47. 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
  48. 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
  49. 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