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512 articles
April 202624
Omics in hereditary optic neuropathies: A systematic review of clinical studies with an integrated point of view.
This systematic review examined the application of omics strategies in understanding hereditary optic neuropathies, focusing on 22 clinical studies.
A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood.
A 40-year-old man presented with global developmental delay, intellectual disability, myoclonic epilepsy, and cerebellar ataxia.
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.
A 22-year-old male presented with an atypically mild form of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic.
An infant with Costello syndrome and a pathogenic HRAS variant presented with drug-refractory multifocal atrial tachycardia (MAT).
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation.
An infant diagnosed with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) exhibited severe cardiac dysfunction. Despite genome sequencing failing to identify pathogenic variants, RNA sequencing indicated reduced ETFB…
Early-Onset Epileptic Encephalopathy and Neurodevelopmental Regression Associated With ST3GAL5 Deficiency.
A Turkish male infant presented with developmental delay and hypotonia, progressing to refractory epilepsy and neurodevelopmental regression.
Cornelia de Lange syndrome in an extremely low birth weight infant: a case report.
An infant born by emergency cesarean delivery at 34 weeks and 1 day weighed 994 g (-3.7 SD score). Cornelia de Lange syndrome (CdLS) was suspected from dysmorphic findings including forehead and femoral hirsutism, cleft…
Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant.
A family with a novel missense variant in the TUBB gene presented with significant intrafamilial phenotypic variability. The proband exhibited severe symptoms, including seizures and developmental delay from 6 months…
Unexpected Virilization in a Patient with Turner Syndrome with Unbalanced Y/7 Translocation in the Gonadal Tissue: Gonadoblastoma Diagnosis.
An 18-year-old girl with Turner syndrome presented with virilization at age 12, alongside short stature and severe intellectual disability.
Unusual presentation of cone dysfunction consequent upon a homozygous FAM161A variant.
A 20-year-old male presented with subnormal vision, photophobia, nystagmus, and loss of color vision. Fundus imaging revealed bilateral macular pigmentary mottling and mild retinal vascular attenuation.
A Novel YY1AP1 Variant in Grange Syndrome: Clinical and Molecular Findings in Eight Individuals With a Dual Molecular Diagnosis Involving CLMP in One Patient.
This report describes eight individuals from a consanguineous family diagnosed with Grange syndrome, characterized by multiple fractures, bone fragility, and other systemic manifestations.
Biallelic Splicing Variant c.12479+3A>G in FAT4 Causes Hennekam Lymphangiectasia-Lymphedema Syndrome 2.
A 15-month-old male presented with peripheral lymphedema, facial dysmorphism, camptodactyly, and generalized hypotonia. Genetic testing identified a homozygous splice site variant, c.12479+3A>G, in the FAT4 gene…
A novel CEP78 variant and rod-cone dystrophy in non-consanguineous siblings.
Two non-consanguineous Chinese male siblings presented with severe rod-cone dystrophy (RCD) at ages 7 and 42. Clinical examination, multimodal imaging, and electroretinogram confirmed the diagnosis.
Dual FDG and Octreotide PET/CT Imaging in a Patient With Malignant Pheochromocytoma and VHL Gene Mutation.
A 59-year-old woman with a history of recurrent pheochromocytoma underwent 18 F-FDG and 18 F-octreotide PET/CT to evaluate metastatic disease following progression on targeted therapy.
Radial lattice degenerations and foveal hypoplasia: Late diagnosis of Stickler syndrome in a patient without high myopia.
A 39-year-old woman with unclassified bone-muscle dysplasia and no previous ocular history presented with floaters. Examination showed radial lattice degeneration in both eyes, and optical coherence tomography…
Are There Any Effective Behavior Change Strategies for Communicating Genetic Risk in Obesity Prevention and Body Weight Reduction Interventions?
This preregistered systematic review assessed whether intervention components influence the effects of genetic risk communication on obesity-related outcomes.
A novel multimorbidity: co-occurrence of neonatal diabetes mellitus and leukocyte adhesion deficiency type 1 in two siblings.
Two sisters born to consanguineous parents had permanent neonatal diabetes mellitus and leukocyte adhesion deficiency type 1 (LAD-1). Both carried homozygous variants in the INS promoter (c.-331C>G) and ITGB2 (c.388T>C).
The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families.
The report describes infants from four unrelated families who screened positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen.
CBL Syndrome With Granular Cell Tumor and café au lait macules: Expansion of the Phenotype.
A patient with CBL syndrome due to a germline likely pathogenic CBL variant had ten café au lait macules and a recurrent granular cell tumor.
Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss.
Two individuals from one family presented with optic atrophy and progressive vision loss. Neither had demonstrable spasticity, ataxia, or peripheral neuropathy.
Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism.
Two Brazilian females with syndromic orofacial clefts had similar atypical facial features and multisystem anomalies, including moderate-to-severe global developmental delay.
The Role of Ultrasonography in the Detection of Von Voss-Cherstvoy Syndrome: A Case Report and Review of Literature.
A case of Von Voss-Cherstvoy syndrome was identified during a routine fetal anomaly scan at 23 weeks’ gestation. The syndrome involves upper-limb abnormalities, encephalocele, variable brain anomalies, urogenital…
Ultrasound Diagnosis of Marfan Syndrome Complicated by Barlow Disease With Mitral Annular Disjunction: A Case Report.
A 17-year-old male presented with six months of intermittent palpitations that had worsened acutely. Examination showed Marfanoid features, an irregular rhythm, and a systolic murmur with a mid-late click.
Oral and maxillofacial manifestations associated with Kabuki syndrome: A systematic review.
This PRISMA-guided systematic review summarized craniofacial, oral, and dental findings reported in people with Kabuki syndrome. It included 33 articles covering 424 patients.
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