Abstract Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) four ( BRAF , MAP 2 K1 K2 KRAS ) have been...

Rearrangements of unstable DNA sequences may alter the structural integrity or copy number dose-sensitive genes, resulting in variations. They lead more frequently to deletions, addition duplications and/or inversions, which are underlying pathogenic mechanism a group conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions short arm chromosome 1 rare, and only about 30 patients have been reported. Their clinical features variable, respect extent...

The COVID-19 pandemic has further highlighted the continuing threat of antimicrobial resistance (AMR) to global health and economic development. In last two decades, AMR raised increasing concern, with an estimated 4.95 million deaths globally due bacterial in 2019 alone. aim this study was analyse impact on spread multidrug-resistant organisms (MDROs) using data from Hospital "P. Giaccone" Palermo, comparing pre-pandemic periods.

Abstract Background Aplasia cutis congenita (ACC), classified in nine groups, is likely to be underreported, since milder isolated lesions wellbeing newborns could often undetected, and solitary the context of polymalformative syndromes not always reported. Regardless form cause, therapeutic options have common aim restore deficient mechanical immunological cutaneous protection limit risk fluid leakage or rupture exposed organs. We aimed review our institutional prevalence, comorbidities,...

Abstract We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical genomic findings observed are consistent the diagnosis microdeletion syndrome.

Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 ( NF1 ) gene region, are responsible for microdeletion syndrome, observed in 4.2% of all patients. Large deletions and its flanking regions associated with a more severe phenotype than general population. Case presentation We hereby describe clinical molecular features two girls (aged 2 4 years, respectively), non-mosaic atypical deletions. Patient showed fifteen café-au-lait spots axillary freckling, as...

Abstract Background Aim of this retrospective study was to describe clinical characteristics, diagnostic work-up, management and follow-up newborns with neural tube defects (NTDs), admitted the Mother Child Department University Hospital Palermo, in a ten years period. Methods The medical records 7 (5 males 2 females) admitted, over 10-year period from January 2010 March 2020, our on first day life were reviewed. Analyzed data related familiar and/or maternal risk factors (consanguinity,...

Abstract Background Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause care admission. Hyperinsulinemic hypoglycemia often resistant dextrose infusion and needs rapid diagnosis treatment. Several congenital conditions, from single gene defects genetic syndromes should be considered in diagnostic approach. Kabuki syndrome type 1 (MIM# 147920) 2 300867), can associated with hyperinsulinemic hypoglycemia. Patient presentation...

Schierz, Ingrid Anne Mandy; Serra, Gregorio; Antona, Vincenzo; Persico, Ivana; Corsello, Giovanni; Piro, Ettore Author Information

Abstract Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence 1:20,000. It caused by mutations PKHD1 gene, on chromosome 6p12. The clinical spectrum highly variable, ranging from late-onset milder forms to severe perinatal manifestations. management newborns pulmonary insufficiency challenging, and causes early death are sepsis or respiratory failure. In cases massive enlargement,...

Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It associated heterozygous mutation of the tumor protein p63 ( TP63 ) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence eyelids), abnormalities (sparse and frizzy hair, skin defects, nail alterations,...

Background: Congenital diaphragmatic hernia (CDH) represents one of the most critical neonatal emergencies, whose timely recognition and appropriate management are essential to ensure patient survival. Genetic investigations play a crucial role for accurate diagnostic assessment, especially in those cases associated with other congenital defects and/or dysmorphic features. Interstitial deletions chromosome 1q rare, about 30 reported literature. The phenotypical features affected subjects...

Abstract Background KBG syndrome (MIM #148050) is a rare genetic disease, showing an autosomal dominant pattern of inheritance. It was first described by Herrmann et al. in 1975 three affected families, whose initial letters gave origin to the acronym. A peculiar facies including triangular face, synophrys, macrodontia upper central incisors, as well short stature, skeletal defects and neurodevelopmental disorders (developmental delay, intellectual disability, epilepsy) are main features...

Abstract Background Munchausen syndrome by proxy represent forms of abuse with long-term psychiatric outcomes. Since the prevalence Syndrome is uncertain and underestimated, this study aimed to investigate analyze phenomenon through compilation an anonymous questionnaire that explores knowledge above all its management. Methods was conducted sending pediatricians who are part Italian Society Pediatrics. The consists 18 multiple choice questions completed 511 professionals. Results main...

Background: Interstitial deletions of chromosome 1q are rare, with about 30 cases reported in the literature. The phenotypical features affected subjects described so far include microcephaly, pre- and post-natal growth retardation, psychomotor delays, ear anomalies, brachydactyly, addition to small hands feet, rarely a congenital diaphragmatic hernia (CDH). Case presentation: Here, we report on neonate CDH, dysmorphic features, multiple midline anomalies including cleft palate, whom an...

The aim of this retrospective study was to define clinical and molecular characteristics a large sample neurofibromatosis type 1 (NF1) patients, as well evaluate mutational spectrum genotype-phenotype correlation. NF1 is relatively common neurogenetic disorder (1:2500–1:3000 individuals). It caused by mutations the gene on chromosome 17ql1.2, with autosomal dominant pattern inheritance wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas...

Key Clinical Message Recent studies report a high incidence of monozygotic twinning in Beckwith–Wiedemann syndrome. A phenotypical discordance twins is rare. Twinning and syndrome show higher children born after assisted reproductive techniques. We on the first observation esophageal atresia one naturally conceived discordant twins.

Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in nuclear gene (2p16) leucine-rich pentatricopeptide repeat-containing ( LRPPRC ). It an autosomal recessive neurogenetic OXPHOS disorder, phenotypically distinct from other types syndrome, carrier frequency up to 1:23 and incidence...

Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad iris coloboma, anorectal malformations, and auricular abnormalities present 40% patients, other congenital defects may also be observed. typical associated cytogenetic anomaly relies on an extra chromosome, derived from inverted duplication short arm proximal long chromosome 22, resulting partial trisomy or tetrasomy such regions (inv dup 22pter-22q11.2).We...