Ειδοποίηση Μελετητή:[ Laryngomalacia ]
[HTML] … mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia
CP Chen, SP Lin, YP Liu, SR Chern, SW Chen, ST Lai… - Taiwanese Journal of …, 2017
The male propositus was the first child of a healthy unrelated couple. The mother was 32
years old, and the father was 37 years old at his birth. There was no family history of
congenital malformations. The pregnancy was uncomplicated and associated with
years old, and the father was 37 years old at his birth. There was no family history of
congenital malformations. The pregnancy was uncomplicated and associated with
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Pulmonary surfactant dysfunction in pediatric cystic fibrosis: Mechanisms and reversal with a lipid-sequestering drug
L Gunasekara, M Al-Saiedy, F Green, R Pratt… - Journal of Cystic Fibrosis, 2017
... analysis. BLFs were also obtained from 9 patients without CF, with a variety of
conditions requiring investigative bronchoscopy including foreign body removal,
laryngomalacia, hemoptysis and suspected immotile cilia syndrome. ...
conditions requiring investigative bronchoscopy including foreign body removal,
laryngomalacia, hemoptysis and suspected immotile cilia syndrome. ...
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[HTML] Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13. 3-q21. 1 duplication encompassing ATRX and a literature review of syndromic intellectual …
CP Chen, HK Yip, LK Wang, SR Chern, SW Chen… - Taiwanese Journal of …, 2017
... Hou [10] reported dup(X)(q13.2q21.2) in a 2-year-old boy with hypotonia, gastroesophageal
reflux, laryngomalacia, recurrent infections, IgG4 deficiency, dysgenesis of the corpus callosum,
proximal renal tubular acidosis and nephrolithiasis, and his normal healthy mother and ...
reflux, laryngomalacia, recurrent infections, IgG4 deficiency, dysgenesis of the corpus callosum,
proximal renal tubular acidosis and nephrolithiasis, and his normal healthy mother and ...
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BMI May Be the Risk Factor for Arytenoid Dislocation Caused by Endotracheal Intubation: A Retrospective Case-Control Study
Z Lou, X Yu, Y Li, H Duan, P Zhang, Z Lin - Journal of Voice, 2017
... It is speculated that conditions such as laryngomalacia, acromegaly, or chronic steroid use may
increase the risk of arytenoid dislocation by weakening the joint capsule, 10 but the 28 patients
with cricoarytenoid dislocation in this study did not have the above diseases and ...
increase the risk of arytenoid dislocation by weakening the joint capsule, 10 but the 28 patients
with cricoarytenoid dislocation in this study did not have the above diseases and ...
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Syndromes 8 Deformities
EE Amerstorfer, AK Saxena - Chest Wall Deformities, 2017
... 1 DLL3 MESP2 HES7 LFNG Spruijt, et al.'Identification of a novel EYA1 mutation presenting in
a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum'(2006) EYA1
Stickler syndrome–Hereditary progressive arthro-ophthalmopathy–Cervenka ...
a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum'(2006) EYA1
Stickler syndrome–Hereditary progressive arthro-ophthalmopathy–Cervenka ...
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Clinical and molecular genetic characterization of two siblings with trisomy 2p24. 3‐pter and monosomy 5p14. 3‐pter
D Fukushi, K Kurosawa, Y Suzuki, K Suzuki, K Yamada… - … Journal of Medical Genetics Part A
... 2.2 SD), respectively, and her Apgar scores were 8/1 and 9/5. She had a metopic ridge,
hypertelorism, epicanthal folds, almond-shaped eyes, short philtrum, low-set ears, small mouth,
postaxial polydactyly of the left foot, myelomeningocele, laryngomalacia, and tracheomalacia ...
hypertelorism, epicanthal folds, almond-shaped eyes, short philtrum, low-set ears, small mouth,
postaxial polydactyly of the left foot, myelomeningocele, laryngomalacia, and tracheomalacia ...
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