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Recurrence Patterns of Odontogenic Keratocysts in Syndromic and Non-Syndromic Patients
PurposeOdontogenic keratocysts (OKCs) have high recurrence rates. We aimed to identify recurrence patterns in OKCs and the onset of second primary...
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Genetic profile of syndromic retinitis pigmentosa in Portugal
PurposeRetinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20–30% of...
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A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis
AbstractSyndromic obesity refers to obesity occurring with additional clinical findings, such as intellectual disability/developmental delay,...
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Management of Midface Deficiency in Syndromic Craniosynostosis with Lefort III Distraction Osteogenesis, Outcomes, and Pitfalls
BackgroundSyndromic craniosynostosis is characterized by premature fusion of cranial sutures resulting in midface deficiency. Lefort III Distraction...
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Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria
PurposeHearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become...
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A Descriptive Observational Study of GJB2 and GJB6 Mutations in Familial Autosomal Recessive Non-syndromic Hearing Impairment
Mutations in the genes, GJB2 and GJB6 play an important role in autosomal recessive, non-syndromic hearing loss. This study is aimed to detect the...
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Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing
PurposeThe present study aimed to identify the molecular etiology of non-syndromic congenital cataract (CC) using whole-exome sequencing (WES)...
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Yield of genetic evaluation in non-syndromic pediatric moyamoya patients
PurposeFew guidelines exist for genetic testing of patients with moyamoya arteriopathy. This study aims to characterize the yield of genetic testing...
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Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation
Supravalvular aortic stenosis (SVAS) has been well described in Williams–Beuren Syndrome and non-syndromic elastin (ELN) mutations. Non-syndromic ELN...
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Syndromic MEN1 parathyroid adenomas consist of both subclonal nodules and clonally independent tumors
Primary hyperparathyroidism with parathyroid tumors is a typical manifestation of Multiple Endocrine Neoplasia Type 1 (MEN1) and is historically...
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Frequency and predictors of concurrent complications in multi-suture release for syndromic craniosynostosis
PurposeUnderstanding the complication profile of craniosynostosis surgery is important, yet little is known about complication co-occurrence in...
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Skeletal expansion via craniofacial distraction osteogenesis technique in syndromic craniosynostosis: impact on ophthalmic parameters
BackgroundThis study aims to compare the changes in ophthalmic parameters among syndromic craniosynostosis patients who underwent craniofacial...
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Community health surveillance via digital collection of syndromic and behavior data by community healthcare workers in rural Kenya: a pilot study
Disease surveillance is essential to enable adequate detection and response to disease outbreaks. Syndromic surveillance is used to augment...
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The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review
PurposeThe objective of this literature review was to provide a comprehensive and up-to-date overview of the current understanding of the genetic...
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The rationale for nephron-sparing surgery in unilateral non-syndromic Wilms tumour
The central question of nephron-sparing surgery in unilateral non-syndromic Wilms tumour sits at a crossroads between surgery, oncology, and...
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Understanding the Genetic and Non-Genetic Interconnections in the Aetiology of Syndromic Congenital Heart Disease: An Updated Review: Part 2
Purpose of ReviewApproximately 30% of syndromic cases diagnosed with CHD, which lure us to further investigate the molecular and clinical challenges...
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Early posterior vault distraction osteogenesis changes the syndromic craniosynostosis treatment paradigm: long-term outcomes of a 23-year cohort study
BackgroundEarly surgical management of syndromic craniosynostosis varies widely between centers, with patients typically undergoing multiple...
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Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations
Traditional genetic testing for patients with gastrointestinal stromal tumors (GISTs) focus on those with syndromic features. To assess whether...
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Maternally inherited non-syndromic hearing loss is linked with a novel mitochondrial ND6 gene mutation
BackgroundMaternally inherited non-syndromic hearing loss is linked with mitochondrial DNA mutations.
AimThis investigation demonstrates the...
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Frequency of cystoid macular edema and vitreomacular interface disorders in genetically solved syndromic and non-syndromic retinitis pigmentosa
PurposeRetinitis pigmentosa (RP) corresponds to a group of inherited retinal disorders where progressive rod-cone degeneration is observed. Cystoid...
