New ocular finding in Baraitser-Winter syndrome.

We report a 3-year-old girl with short stature, mild developmental delay and intellectual disability, minor brain anomalies and very few dysmorphic features including unusual stroma of the irises and corectopia. Exome sequencing reported a de novo pathogenic variant on the ACTB gene. The present report adds a new ocular finding to the phenotypic spectrum which may be mild. PMID: 29024830 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research

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Authors: DENTAL SUPPLEMENT, Candotto V, Oberti L, Gabrione F, Greco G, Rossi D, Romano M, Mummolo S Abstract Nonsyndromic cleft lip with or without cleft palate is the most common craniofacial anomaly affecting around 1 in 700 live births worldwide. Clefts of the human face can be classified anatomically as cleft palate only (CPO), cleft lip only (CLO), cleft lip and palate (CLP) or a combined group of cleft lip with or without cleft palate (CL/P), based on different in embryologic development. These malformations have some genetic origin, in fact several association studies have been performed to obtain important ...
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research
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Source: SafetyLit - Category: International Medicine & Public Health Tags: Violence and Weapons Issues Source Type: news
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Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Elder Adults Source Type: news
BACKGROUND: This systematic review of epilepsy mortality systematic reviews evaluates comparative risks, causes, and risk factors for all-cause mortality in people with epilepsy (PWE) to specifically establish the burden of epilepsy-related deaths. ...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Drowning, Suffocation Source Type: news
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Source: SafetyLit - Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
OBJECTIVE To provide a reference for the assessment of the disability grade of K ümmell's disease [osteonecrosis and collapse of a vertebral body] cases, through the analysis of the basic situation, the disability grade and the causality of Kümmell's dise...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
CONCLUSION: Blast related injuries of the hand during childhood are frequent and can cause different and complex defects. Besides prevention of these injuries, primary reconstruction of the affected hand is of outmost importance in preventing long-term consequences. PMID: 31537039 [PubMed - as supplied by publisher]
Source: Zeitschrift fur Orthopadie und Unfallchirurgie - Category: Orthopaedics Tags: Z Orthop Unfall Source Type: research
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Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
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Source: Orthopaedics and Traumatology: Surgery and Research - Category: Orthopaedics Source Type: research
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