Total: 3 |
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PMID (PMCID) | ||
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24243657 |
FEMALE | |
A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis. | ||
van Binsbergen E, Ellis RJ, Abdelmalik N, Jarvis J, Randhawa K, Wyatt-Ashmead J, Canham N, Thorpe-Beeston JG, Mancini GM, Van Haelst MM. Am J Med Genet A. 2014;164A(1):194-8. |
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We describe a female fetus with a de novo deletion of 2q33.2 to q35 with delayed gyral formation with widespread neuronal heterotopia of the white matter, small cerebellum, esophageal atresia, laryngeal stenosis, micrognathia, and intrauterine growth retardation. | ||
19776546 |
FEMALE | Adult |
Severe micrognathia: indications for EXIT-to-Airway. | ||
Morris LM, Lim FY, Elluru RG, Hopkin RJ, Jaekle RK, Polzin WJ, Crombleholme TM. Fetal Diagn Ther. 2009;26(3):162-6. |
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CASE 3: A 36-year-old G6P3023 with fetal magnetic resonance imaging (MRI) revealing esophageal atresia, polyhydramnios, and severe micrognathia with a jaw index <5th percentile. | ||
16681404 |
MALE | Infant, Newborn |
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. | ||
Ozkan KU, Coban YK, Uzel M, Ergun M, Oksuz H. Cleft Palate Craniofac J. 2006;43(3):317-20. |
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This report presents a 3-day-old infant with micrognathia, U-shaped cleft palate, low-set right ear with microtia, glossoptosis, esophageal atresia, and right congenital radioulnar synostosis. |