Trending archive
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671 articles
March 20265
Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.
The report describes three patients with focal dermal hypoplasia, an X-linked dominant disorder caused by loss-of-function variants in PORCN and characterized by abnormalities involving ectodermal, skeletal…
A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.
Kabuki syndrome (KS) is a rare, multiple congenital anomaly syndrome, characterized by dysmorphic facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay, mild-to-moderate intellectual…
Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature.
A 5-month-old male from a consanguineous family presented with severe hypotonia, oculogyric crises, and developmental delay.
Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.
This expert-opinion article discusses ENPP1 deficiency, a genetic disorder caused by loss-of-function mutations and associated with low circulating inorganic pyrophosphate, bone hypomineralization, soft-tissue…
Orbital Abscess in an Infant With STAT3 Hyper-IgE Syndrome.
A 34-day-old girl presented with severe unilateral periorbital swelling and proptosis. Imaging showed a large orbital abscess with ethmoid sinusitis.
February 202616
Congenital core myopathy linked to SOX5 : Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.
A 20-year-old woman with neonatal hypotonia, delayed motor milestones, proximal weakness and learning difficulties had a normal serum creatine kinase and mild myogenic changes on electroneuromyography.
A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.
A late-preterm female had multiple congenital malformations identified prenatally, including congenital diaphragmatic hernia (CDH).
Double Mutations in the FLNA and MYH11 Genes Causing Familial Thoracic Aortic Aneurysm and Dissection: A Report of Two Cases.
A 36-year-old woman presented with acute aortic dissection and required emergency surgery. Eight years later, her child was diagnosed with an aortic aneurysm; head MRI also showed periventricular nodular heterotopia.
Immune Dysregulation, Polyendocrinopathy and Enteropathy X-Linked Syndrome with Neonatal Onset: A Case Report.
A male infant born preterm at 30 weeks’ gestation developed enteropathy, eczema, eosinophilia, transfusion-dependent cytopenias, recurrent infections, and a desquamative rash.
Metabolism, Not Mendacity: Rethinking Prolonged Cocaine Positivity.
A 42-year-old man with severe stimulant use disorder had urine tests positive for cocaine metabolites for 18 days, including 12 days after abstinence was verified in a residential program.
A case of Kabuki syndrome with congenital pulmonary airway malformation.
A child with delayed physical growth and neurological, psychological, and intellectual development had facial features including arched eyebrows and elongated eyelids slanting downward.
Familial Mediterranean Fever Presenting with Recurrent Abdominal Pain without Periodic Fever Following COVID-19.
A 16-year-old girl developed recurrent abdominal pain without fever after COVID-19. Initial evaluation, including endoscopy, was unremarkable apart from mildly elevated fecal calprotectin (182.1 μg/g).
Incidental MSH6 Germline Pathogenic Variant Identified through Tumor-only Comprehensive Genomic Profiling in a Patient with Small Cell Lung Cancer.
A 55-year-old woman with limited-disease small cell lung cancer had a partial response to first-line chemotherapy, followed by recurrence after one year.
Outer nuclear layer hyperreflectivity as an optical coherence tomography finding in Danon disease.
To describe an optical coherence tomography (OCT) finding that is highly prevalent in Danon disease.
A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.
A 5-month-old infant presented with jerking movements during a car ride, followed by generalized tonic-clonic seizures and recurrent kinesigenic posturing.
IRF6 Gene Polymorphisms Influence the Susceptibility of Nonsyndromic Cleft Lips With or Without Palate: A MOOSE-Compliant Meta-Analysis.
This MOOSE-compliant meta-analysis pooled 53 published case-control studies to assess six IRF6 polymorphisms and susceptibility to nonsyndromic cleft lip with or without palate (CL ± P) across ethnic groups.
Familial Ascending Aortic Aneurysm in a Child With a Pathologic Variant of the Lysyl Oxidase Gene.
A five-year-old boy presented to the emergency department with upper respiratory symptoms. Chest radiography unexpectedly showed marked mediastinal enlargement, and further evaluation identified a 9-cm thoracic aortic…
Genetic Association of RXFP2 T222P Variant With Cryptorchidism: A Meta-Analytic Study.
This systematic review and meta-analysis assessed whether the RXFP2 T222P variant is associated with cryptorchidism. It included five studies with genotype data from case and control populations.
GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report.
A 3-month-old infant of Middle Eastern background presented with severe thrombocytopenia (platelet count 6,000/μL) and neutropenia.
Organizing Pneumonia in a Patient with Pulmonary Transthyretin Amyloidosis.
An 86-year-old retired tunnel construction worker with pleural plaques and chronic pleural effusion was evaluated for newly developed pulmonary infiltrates.
Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Associated with the CSF1R p. (Ile843Thr) Variant: Clinical, Imaging, and Molecular Characterization.
An adult presented with progressive cognitive and behavioral decline, followed by motor dysfunction. MRI showed predominantly frontoparietal white matter lesions and thinning of the corpus callosum, raising concern for…
January 20263
Successful bridge to diagnosis: Extracorporeal life support in generalized arterial calcification of infancy.
A term female newborn developed persistent pulmonary hypertension and required venoarterial extracorporeal life support within 24 hours of birth.
Efficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series.
The report qualitatively assessed treatment responses in five individuals with Dravet syndrome and 2q24.3 microdeletions involving SCN1A and other voltage-gated sodium-channel genes.
A novel homozygous variant of AURKC causes macrozoospermia in a Chinese family.
Macrozoospermia is a rare cause of male infertility characterized by a high proportion of sperm with large, irregular heads.
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