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Clinical Genetics

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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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

  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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

  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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
  46. 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
  47. 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
  48. 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
  49. 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