A Look at Breathing, Feeding, and Speech Problems in Patients with Treacher Collins Syndrome

2022 ◽  
pp. 311-323
Author(s):  
Karin De La Fuente ◽  
Kevin E. Bright
Keyword(s):  
Treacher Collins Syndrome

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome

2021 ◽  
Vol 141 ◽  
pp. 110561
Author(s):  
Haisheng Zeng ◽  
Mingyu Xie ◽  
Jianbo Li ◽  
Haoqiang Xie ◽  
Xiaomei Lu
Keyword(s):  
Nonsense Mutation ◽  
Treacher Collins Syndrome

Recurrence of Treacher Collins' Syndrome with Sonographic Findings

1994 ◽  
Vol 159 (3) ◽  
pp. 250-252 ◽  
Author(s):  
Douglas A. Milligan ◽  
Frederick E. Harlass ◽  
Patrick Duff ◽  
Jerome N. Kopelman
Keyword(s):  
Treacher Collins Syndrome

Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families

2012 ◽  
Vol 158A (7) ◽  
pp. 1556-1567 ◽  
Author(s):  
Rebecca L. Wu ◽  
Cathleen S. Lawson ◽  
Ethylin Wang Jabs ◽  
Saskia C. Sanderson
Keyword(s):  
Genetic Testing ◽  
Treacher Collins Syndrome ◽  
Prenatal Genetic Testing

Treacher?Collins Syndrome and Neurofibromatosis

1986 ◽  
Vol 25 (2) ◽  
pp. 115-116
Author(s):  
Michael Kahana ◽  
Mayer Ronnen ◽  
Miriam Schewach-Millet ◽  
Abraham Feinstein
Keyword(s):  
Treacher Collins Syndrome

scholarly journals TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

1997 ◽  
Vol 94 (7) ◽  
pp. 3110-3115 ◽  
Author(s):  
C. A. Wise ◽  
L. C. Chiang ◽  
W. A. Paznekas ◽  
M. Sharma ◽  
M. M. Musy ◽  
...  
Keyword(s):  
Treacher Collins Syndrome ◽  
Coding Region

Treacher Collins syndrome with acute airway obstruction

2000 ◽  
Vol 54 (1) ◽  
pp. 41-43 ◽  
Author(s):  
Fahim Ahmed Shah ◽  
S. Ramakrishna ◽  
Vijendra Ingle ◽  
J.E. Dada ◽  
Mazin Al Khabori ◽  
...  
Keyword(s):  
Airway Obstruction ◽  
Treacher Collins Syndrome ◽  
Acute Airway Obstruction

Difficult Laryngoscopy/Intubation: The Child with Mandibular Hypoplasia

1983 ◽  
Vol 92 (4) ◽  
pp. 401-404 ◽  
Author(s):  
Steven D. Handler ◽  
Thomas P. Keon
Keyword(s):  
Temporomandibular Joint ◽  
Direct Laryngoscopy ◽  
Anterior Commissure ◽  
Difficult Laryngoscopy ◽  
Treacher Collins Syndrome ◽  
Pierre Robin Sequence ◽  
Hemifacial Microsomia ◽  
Mandibular Hypoplasia ◽  
Pierre Robin ◽  
Infants And Young Children

The child with mandibular hypoplasia (Treacher Collins syndrome, Pierre Robin sequence, hemifacial microsomia, etc) presents the otolaryngologist and anesthesiologist with considerable problems when direct laryngoscopy and/or endotracheal intubation is attempted. In addition to the small mandible, several other features of these patients contribute to the difficult laryngoscopy: macroglossia, glossoptosis, trismus related to temporomandibular joint abnormalities, and prominent maxilla or maxillary incisors. Most of the techniques that have been described for laryngoscopy/intubation in problem cases are difficult or impossible to use in infants and young children with mandibular hypoplasia. We present a modification of the standard direct laryngoscopic procedure, utilizing the 9-cm anterior commissure laryngoscope and an optical stylet in the task of exposing and intubating the larynx of a child with mandibular hypoplasia.

Cephalometric Predictors of Clinical Severity in Treacher Collins Syndrome

2017 ◽  
Vol 140 (6) ◽  
pp. 1240-1249 ◽  
Author(s):  
Elçin Esenlik ◽  
Natalie M. Plana ◽  
Barry H. Grayson ◽  
Roberto L. Flores
Keyword(s):  
Clinical Severity ◽  
Treacher Collins Syndrome
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