Results 1 to 10 of about 73,554 (162)
Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review
Biomedicines, 2023 Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype.
Mirko Aldè +12 more
doaj +3 more sources
Familial non-syndromic oligodontia
Journal of Indian Academy of Oral Medicine and Radiology, 2015 Oligodontia, a rare genetic disorder, represents the congenital absence of more than six teeth in primary, permanent, or both dentitions and is usually the feature of a syndrome. Its occurrence as an isolated entity is even rarer.
Seema Basoya +3 more
doaj +2 more sources
Non-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review [PDF]
ReportsBackground and Clinical Significance: Ganglioneuromatosis is a benign proliferation of mature ganglion cells, Schwann cells, and nerve fibers within the enteric or autonomic nervous system.
Catalin-Bogdan Satala +3 more
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Non-syndromic supernumerary premolars [PDF]
BMJ Case Reports, 2011 A 22-year-old male reported with the chief complaint of spacing between front teeth and unpleasant smile. Medical and dental history was non-contributory. Intra oral examination revealed Angle’s class I molar relationship with midline diastema. Bilateral supplementary mandibular premolars were noted …
Amitabh, Kallury +3 more
openaire +5 more sources
Bilateral synchronous, NON syndromic wilms tumor
Journal of Pediatric Surgery Case Reports, 2022 Bilateral synchronous Wilms tumour represents 4–8% of all Wilms tumours (WTs). The ultimate goal in such cases is to preserve as much renal parenchyma as possible while achieving total/near total tumour resection. We report the case of a 3 years old male
Jaini B. Modi +5 more
doaj +1 more source
Brazilian Journal of Otorhinolaryngology, 2021 Introduction: Non-syndromic cleft lip with or without cleft palate is a common worldwide birth defect due to a combination of environmental and genetic factors.
Qian Wang +5 more
doaj +1 more source
Frontiers in Endocrinology, 2023 IntroductionA substantial proportion of SGA patients present with a syndrome underlying their growth restriction. Most SGA cohorts comprise both syndromic and non-syndromic patients impeding delineation of the recombinant human growth hormone (rhGH ...
Marianne Becker +17 more
doaj +1 more source
Non-syndromic retinitis pigmentosa [PDF]
Progress in Retinal and Eye Research, 2018 Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic, 20-30% of patients with RP also have an associated non-ocular ...
Verbakel, S.K. +9 more
openaire +4 more sources
Prevalence of Cardiac Anomalies in Children with Syndromic and Non-syndromic Craniosynostosis [PDF]
International Clinical Neuroscience Journal, 2022 Background: Craniosynostosis mostly occurs as a single abnormality; however, it may rarely occur concomitantly with other congenital abnormalities known as syndromic craniosynostosis.
Ali Riazi +7 more
doaj +1 more source
Non-syndromic double lip [PDF]
BMJ Case Reports, 2013 A 57-year-old man reported to the outpatient department with the chief compliant of deformed upper lip which was present since birth. He denied any complaints other than cosmetic ones. On examination, an extra fold of redundant tissue was present on the inner surface of the upper lip. The …
Ravi Prakash Sasankoti, Mohan +3 more
openaire +2 more sources