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671 articles
January 20263
Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.
Pathogenic variants in the KIDINS220 gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus.
Novel compound heterozygous ITGA2B mutations in Glanzmann thrombasthenia associated with adolescent osteoporosis.
A 14-year-old with Glanzmann thrombasthenia had asymptomatic radial osteoporosis without identified secondary causes. Platelet aggregation testing and flow cytometry supported type I disease, with CD41/CD61 expression…
Rapid Regression of Myocardial Hypertrophy with First-Line Avalglucosidase Alfa in Infantile-Onset Pompe Disease: A Case Report.
A male infant had myocardial hypertrophy on neonatal echocardiography without skeletal muscle weakness. By 3 months, he had feeding difficulty, severe cardiomegaly (left ventricular mass index [LVMI] 419.5 g/m²; Z-score…
December 20256
Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.
This systematic review and meta-analysis assessed the diagnostic utility of whole exome sequencing (WES), chromosomal microarray (CMA), and whole genome sequencing in children with unexplained global developmental delay…
Identification of BAP1 Germline Mutation in a Pediatric Patient With Skull Base Meningioma.
An adolescent girl presented with a rare skull-base tumor whose imaging appearance suggested schwannoma. Testing for germline variants in NF2, LZTR1, and SMARCB1 was negative.
From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.
Four Argentine children with PDHA1-related pyruvate dehydrogenase complex deficiency had presentations spanning severe neonatal encephalopathy with central apneas to slowly progressive neurologic disease in childhood.
Navigating the Uncommon: "Juvenile-Onset Huntington Disease".
A 12-year-old girl presented with stroke and progressive neurocognitive decline, followed by choreo-athetoid movements, worsening dystonia, and epilepsy.
Novel de novo CLCN7 mutation in refractory osteopetrosis-related osteomyelitis: A case report and multidisciplinary therapeutic dilemmas.
A 57-year-old man with ADO-II presented with refractory mandibular osteomyelitis, facial swelling, and trismus. Imaging showed mandibular osteolysis alongside “sandwich vertebrae” and “Erlenmeyer flask” deformities…
Acute liver failure as the first symptom of childhood systemic lupus erythematosus: a case report and review of the literature.
A 9-year-old Chinese girl presented with acute liver failure as the initial manifestation of systemic lupus erythematosus (SLE), without typical skin or joint features.
November 20253
Catch-Up Growth in Syndromic Robin Sequence: A Systematic Review.
ObjectiveThe triad of micrognathia, glossoptosis, and airway obstruction defines Robin sequence (RS). Syndromic RS accounts for about 60% of cases, but whether mandibular "catch-up" growth occurs in these cases remains…
Unlocking Rare Diagnoses: The Essential Role of Molecular Techniques in Hemoglobin Agrinio. A Case Report.
A girl had anemia from birth and high transfusion needs. Evaluation led to a recent diagnosis of homozygous Hb Agrinio, a nondeletional alpha-thalassemia variant caused by an α2-globin substitution (α29(B10) Leu→Pro…
Familial hyponatremia conditioned by the R137C mutation with constitutive activation of the vasopressin receptor.
Two brothers presented with hyponatremia: a 2.5-year-old boy during a respiratory infection and his 7-month-old brother with reduced activity and muscle tone.
September 20251
August 20255
Reversed cortico-medullary differentiation in kidneys on fetal magnetic resonance imaging - a case series.
Three unrelated fetuses had hyperechoic kidneys on ultrasound and reversed signal intensity between the renal cortex and pyramids on fetal MRI sequences.
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.
Two adult patients developed cerebellar syndrome, scanned speech and exercise intolerance beginning in the second or third decade, followed by muscle weakness and impaired gait coordination.
A Case of Carney Complex with Pontine Glioma.
An 11-year-old girl with a history of pontine glioma treated with chemotherapy and radiotherapy in early childhood presented with weight gain and short stature.
Hereditary Hypophosphatemic Rickets with Hypercalciuria-Importance of Further Evaluation when Clinical Suspicion is Strong.
The report describes two children with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). A 5.5-year-old presented with rickets, an abnormal bone profile and normal vitamin D; urinary phosphate studies…
Somatic and germinal mosaicism of a canonical splicing variant causing limb-girdle muscular dystrophy type 1B.
Limb-girdle muscular dystrophy type 1B is one of several muscular dystrophies caused by pathogenic variants in the LMNA gene.
June 20252
Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants.
A preterm male infant born to consanguineous parents presented with advanced kidney dysfunction and severe renal salt wasting, suggesting prenatal-onset Bartter syndrome.
Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.
Two young patients were diagnosed with campomelic dysplasia, with characteristic skeletal findings including bowed lower limbs, pretibial dimples, Pierre Robin sequence, and bilateral clubfoot, as well as motor and…
May 20251
April 20252
Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy.
Two boys with short stature and a history of being born small for gestational age underwent clinical exome sequencing, which identified novel heterozygous IGF1R variants.
Complete-arch implant rehabilitation and adjunctive orthognathic surgery of a patient with hypohidrotic ectodermal dysplasia utilizing a digital workflow: A clinical report.
An adolescent with hypohidrotic ectodermal dysplasia (HED), a genetic disorder associated with congenital ectodermal anomalies and commonly with hypodontia or oligodontia, underwent complete-arch implant rehabilitation…
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