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671 articles
April 202611
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.
Systematic Review and Meta-analysis on the Prevalence of Common Hemoglobinopathies in India.
This systematic review and meta-analysis estimated the prevalence and distribution of common hemoglobinopathies across demographic groups in India.
Expanding the Phenotype of TLK2-Related Neurodevelopmental Disorder: Longitudinal Presentation in Two Young Adult Females.
Two unrelated young adult females with truncating heterozygous TLK2 variants had developmental delay, neurobehavioral abnormalities, and constipation beginning in infancy.
Preemptive hematopoietic stem cell transplantation in RUNX1 familial platelet disorder: a shared decision-making framework.
An individual with RUNX1 familial platelet disorder (RUNX1-FPD) and a family history of hematologic malignancy underwent allogeneic hematopoietic stem cell transplantation (HSCT) before overt malignancy developed.
Histomorphological Features of a Liver Explant From an Adult With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Case Report and Literature Review.
A woman in her early twenties with genetically confirmed arthrogryposis-renal dysfunction-cholestasis syndrome, carrying compound heterozygous VPS33B mutations, developed progressive liver dysfunction and…
March 202613
Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients.
Two unrelated Mexican patients with anterior segment dysgenesis had bilateral iris hypoplasia, ectropion uveae, zonular anomalies, and secondary childhood glaucoma.
Isolated bull's eye maculopathy in two siblings with biallelic TULP1 variants.
Two siblings were evaluated for bull’s eye maculopathy. Multimodal retinal imaging showed the macular finding, while full-field electroretinography and structural assessment found no functional or anatomic evidence of…
Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.
A six-month-old girl with Coffin-Siris syndrome type 1 presented with tearing from both eyes and light sensitivity. Examination showed megalocornea, right inferior corneal edema, elevated intraocular pressure, increased…
A novel case of Heimler syndrome in a young child with compound heterozygous PEX26 mutations: clinical and genetic insights with literature review.
A male infant born at 36 weeks had congenital bilateral sensorineural hearing loss, confirmed by abnormal auditory brainstem responses, and received bilateral cochlear implants.
Unusual Association of Orofacial Cleft and Finger-Like Skin Appendages With or Without Constriction Rings: A Disorganization-Like Phenotype?
The authors describe seven patients with orofacial clefts and finger-like skin appendages, which were present with or without constriction rings.
Characterization of ARB in twins: in-trans frameshift and deep intronic BEST1 variants.
Ten-year-old dizygotic twins presented with bilateral reduced visual acuity and characteristic retinal findings, including multifocal yellow-white flecks, subretinal hyperreflective material with interlaminar splitting…
Pseudoxanthoma Elasticum Treated with Endoscopic Clip Hemostasis for Upper Gastrointestinal Bleeding from a Dieulafoy Lesion.
A 30-year-old woman presented with upper gastrointestinal bleeding from a Dieulafoy lesion and underwent endoscopic hemostasis.
An Autopsy Case of Beare-Stevenson Cutis Gyrata Syndrome Presenting with an Extremely Short Small Intestine.
An infant with Beare-Stevenson cutis gyrata syndrome, a craniosynostosis associated with an FGFR2 pathogenic variant, had severe failure to thrive.
Linggui Yangyuan Paste for Male Infertility with Shen (Kidney) Deficiency and Blood Stasis Syndrome: A Multicenter, Double-Blind, Double-Dummy, Randomized Controlled Trial.
This multicenter, double-blind, double-dummy randomized trial compared Linggui Yangyuan Paste (LG) with Wuzi Yanzong Oral Solution in 162 men with infertility associated with asthenozoospermia or oligoasthenozoospermia…
KCNH2 Duplication Variant (c.2164_2181dup) Associated With Sudden Cardiac Death in a Family With Congenital Long QT Syndrome.
Postmortem genetic testing of a 34-year-old woman who died suddenly identified a KCNH2 variant of uncertain significance, c.2164_2181dup.
Severe renovascular hypertension in an infant with a SMAD3 gene variant.
A boy described at age 4 had severe renovascular hypertension beginning in infancy, with left ventricular hypertrophy as hypertension-mediated organ damage.
VEXAS Syndrome with an Improvement of Chest Shadows without Immunosuppressive Therapy.
An 86-year-old man presented with elevated C-reactive protein, bicytopenia, and bilateral chest shadows. Bronchoalveolar lavage showed an increased lymphocyte count.
Multisystemic Involvement in Autosomal Recessive Cerebellar Ataxia Type 8 Having a Novel SYNE1 Nonsense Variant.
A 33-year-old woman with childhood-onset cerebellar ataxia developed a broad range of additional findings, including motor neuron disease, vocal cord abduction paralysis, joint deformities, oculocutaneous…
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