Results 31 to 40 of about 12,301 (210)
Vici Syndrome with Sensorineural Hearing Loss and Laryngomalacia
Pediatric Neurology Briefs, 2012 Researchers at Baskent University, Adana, and other centers in Turkey report a 3-month-old Turkish girl with Vici syndrome complicated by stridor and laryngomalacia.
J Gordon Millichap
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Treatment of severe micrognathia in an adult with distraction osteogenesis: A case report
Clinical Case Reports, 2023 Key Clinical Message Distraction osteogenesis (DO) of the mandible is often performed at a young age, and there are few reports after age 30, as in this case.
Katsuhisa Sekido +5 more
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Non syndromic Pierre Robin sequence: On the lookout for breathing difficulty
Medical Journal of Dr. D.Y. Patil University, 2012 A full-term vigorous baby male, was born at term. His micrognathia and cleft palate were immediately apparent but there was no clinical evidence of upper airway obstruction. Feeding was commenced with no initial problems.
Meryl S Parekkat +3 more
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Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
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Pediatrics and Neonatology, 2012 Nager syndrome (preaxial acrofacial dysostosis) is rare and mostly sporadic. We present a case of Nager syndrome in Taiwan. Craniofacial findings included micrognathia, malar hypoplasia, downslanting palpebral fissures, cleft palate, and ear anomalies ...
Ju-Li Lin
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
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Mandibular Distraction for Micrognathia in Neonates
, 2018 Pierre Robin sequence (PRS) comprises the clinical triad of micrognathia, glossoptosis, and upper airway obstruction, with a reported incidence of 0.5 to 2.1 per 10,000 live births.
Russell R. Reid +3 more
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Frontiers in PediatricsBackgroundPierre Robin sequence (PRS) is characterized by micrognathia, glossoptosis, and upper airway obstruction. This study aimed to compare the dentoskeletal characteristics of children diagnosed with non-syndromic PRS and those with cleft palate ...
Xiang Zhang +3 more
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