Berardo Rinaldi

Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age‐Stratified Guidelines

Marco Farronato, Maria Francesca Bedeschi, Cristina Grippaudo, Gianluca Martino Tartaglia et autres

This systematic review aimed to collect and appraise the clinical outcomes of all orthopaedic, orthodontic and surgical interventions in ACH patients. Following PROSPERO protocol, multiple database sources were searched to December 2024 with no language restrictions for (i) genetically confirmed ACH; (ii) …

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Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

Alessia Carrer, Francesco Maria Crupano, Berardo Rinaldi, Giulietta Scuvera et autres

BACKGROUND/OBJECTIVES: Prenatal Exome Sequencing (pES) has revolutionized prenatal diagnosis in fetuses with congenital anomalies. Although its performance is very promising, previous pES studies have mainly focused on diagnostic yield, often without considering the actual impact on ongoing pregnancies. In this study, we …

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Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences

Anna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, Valentina Camurri et autres

BACKGROUND: Achondroplasia is the most common form of disproportionate short stature and can lead to serious medical complications, including foramen magnum and spinal stenosis. Until 2021, there were no precision treatments available, and in some countries, elective surgery was considered a standard …

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Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature

Irene Picciolli, Angelo Ratti, Berardo Rinaldi, Anwar Baban et autres

BACKGROUND: Dilated cardiomyopathy (DCM) is an etiologically heterogeneous group of diseases of the myocardium. With the rapid evolution in laboratory investigations, genetic background is increasingly determined including many genes with variable penetrance and expressivity. Biallelic NEXN variants are rare in humans and …

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The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene

Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli et autres

Rubinstein–Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, facial dysmorphisms, and enlarged thumbs and halluces. Approximately 55% of RTS cases result from pathogenic variants in the CREBBP gene, with an additional 8% linked to the EP300 gene. Given …

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Low‐grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis ‐like syndrome

Francesca Cogliati, Letizia Straniero, Valeria Rimoldi, Maura Masciadri et autres

Loss-of-function CHD2 (chromodomain helicase DNA-binding protein 2) mutations are associated with a spectrum of neurodevelopmental disorders often including early-onset generalized seizures, photosensitivity, and epileptic encephalopathies. Patients show psychomotor delay/intellectual disability (ID), autistic features, and behavior disorders, such as aggression and impulsivity. Most …

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Breast density in NF1 women: a retrospective study

Raffaella De Santis, Giulia Cagnoli, Berardo Rinaldi, Dario Consonni et autres

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by neurofibromin haploinsufficiency due to pathogenic variants in the NF1 gene. Tumor predisposition has long been associated with NF1, and an increased breast cancer (BC) incidence and reduced survival have been reported …

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Ring Chromosome 14

Alessandro Vaisfeld, Marco Crimi, Berardo Rinaldi

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Optical coherence tomography angiography findings in Williams-Beuren syndrome

Marco Nassisi, Claudia Mainetti, Andrea Sperti, Guido Galmozzi et autres

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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Berardo Rinaldi, Allan Bayat, Linda G. Zachariassen, Jiahui Sun et autres

AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in …

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Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature.

Irene Picciolli, Angelo Ratti, Berardo Rinaldi, Anwar Baban et autres

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Ocular features in Williams-Beuren syndrome: a review of the literature

Marco Nassisi, Claudia Mainetti, Andrea Aretti, Andrea Sperti et autres

PURPOSE OF REVIEW: The current review will discuss the pathophysiology, work-up and clinical relevance of the ocular phenotype in Williams-Beuren syndrome in detail. RECENT FINDINGS: Few case reports, case series and retrospective studies reported the ophthalmic features in Williams-Beuren syndrome, focusing on …

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