Results 21 to 30 of about 28,866 (195)

Le fort II distraction osteogenesis with a hybrid system for an Apert syndrome patient: A case report

JPRAS Open, 2021
Background: Le Fort II advancement is considered for normalizing the facial appearance in Apert syndrome. When these procedures are performed during growth, overcorrection of midface advancement is required.
Shinji Kobayashi, Toshihiko Fukawa, Yuichiro Yabuki, Toshihiko Satake, Jiro Maegawa   +4 more
doaj   +1 more source

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. [PDF]

PLoS Genetics, 2011
The premature fusion of the paired frontal bones results in metopic craniosynostosis (MC) and gives rise to the clinical phenotype of trigonocephaly.
Lisenka E L M Vissers, Timothy C Cox, A Murat Maga, Kieran M Short, Fenny Wiradjaja, Irene M Janssen, Fernanda Jehee, Debora Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L Cunningham, Peter J Anderson, Simeon A Boyadjiev, Maria Rita Passos-Bueno, Joris A Veltman, Ian Smyth, Michael F Buckley, Tony Roscioli   +21 more
doaj   +1 more source

sj-docx-1-fac-10.1177_27325016231153179 – Supplemental material for Impact of Minor Suture Fusion on Midface Hypoplasia in Syndromic Craniosynostosis

, 2023
Supplemental material, sj-docx-1-fac-10.1177_27325016231153179 for Impact of Minor Suture Fusion on Midface Hypoplasia in Syndromic Craniosynostosis by Ryan G. Layton, Griffin P. Bins, Lyfong Lor, Kshipra Hemal, Joshua F.
Christopher M. Runyan (9309559), Ryan G. Layton (11989706), Lyfong Lor (14560671), Joshua F. Pontier (11989709), Alexandria Waler (14560674), Kshipra Hemal (9695401), Griffin P. Bins (11989712), Vida Motamedi (14560677)   +7 more
core   +1 more source

sj-docx-2-fac-10.1177_27325016231153179 – Supplemental material for Impact of Minor Suture Fusion on Midface Hypoplasia in Syndromic Craniosynostosis

, 2023
Supplemental material, sj-docx-2-fac-10.1177_27325016231153179 for Impact of Minor Suture Fusion on Midface Hypoplasia in Syndromic Craniosynostosis by Ryan G. Layton, Griffin P. Bins, Lyfong Lor, Kshipra Hemal, Joshua F.
Christopher M. Runyan (9309559), Ryan G. Layton (11989706), Lyfong Lor (14560671), Joshua F. Pontier (11989709), Alexandria Waler (14560674), Kshipra Hemal (9695401), Griffin P. Bins (11989712), Vida Motamedi (14560677)   +7 more
core   +1 more source

Anesthesia Management in Achondroplasia: A Case Report

Archives of Anesthesia and Critical Care, 2021
Achondroplasia is the result of a mutation in the gene encoding the type 3 receptor for a fibroblast growth factor. This abnormality results in malformation endochondral ossification.
Houman Teymourian, Hamidreza Azizi Faresani, Faranak Behnaz, Arash Tafrishinejad, Hamideh Ariannia, Sogol Asgari   +5 more
doaj   +1 more source

Simultaneous modified Le Fort III/Le Fort I osteotomies: a treatment option for midface hypoplasia in nonsyndromic patients [PDF]

, 2017
Background: Le Fort III osteotomy represents the main technique for midface hypoplasia correction in syndromal and non-syndromal patients in order to improve midface advancement and achieve better aesthetic and functional results. Objectives: To present
A.M. dos Santos, L. Capelozza-Filho, Sergio Monteiro Lima Junior, I.S. Holz, F.B.D.J. Boos Lima, Fernanda Brasil Daura Jorge Boos Lima, Leopoldino Capelozza Filho, S.M. Lima Junior   +7 more
core   +1 more source

A Newborn with Arhinia: Suspected BAM Syndrome

Journal of Behçet Uz Children's Hospital, 2023
Bosma arhinia microphthalmia (BAM) syndrome is a rare condition, characterized with eye defects, complete absence of nose, and hypogonadotropic hypogonadism. The symptoms and severity of disorder can alter from one patient to another. The etiology of the
Coşkun Armağan, Tuğba Üçüncü Egeli, Can Akyıldız, Kadri Murat Erdoğan, Funda Erdoğan, Nuray Duman, Hasan Özkan   +6 more
doaj   +1 more source

Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present prenatal ultrasound and molecular genetic diagnosis of Apert syndrome. Case Report: A 30-year-old, gravida 3, para 2 woman was referred for genetic counseling at 32 weeks of gestation because of polyhydramnios and craniofacial and ...
Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang   +6 more
doaj   +1 more source

Long term NIV in an infant with Hallermann-Streiff syndrome: A case report and overview of respiratory morbidity

Frontiers in Pediatrics, 2022
Hallermann-Streiff syndrome (HSS) is a rare congenital syndrome with different anomalies including midface hypoplasia, beak nose and micrognathia. The upper airways narrowness can lead to severe respiratory complications such as obstructive sleep apnoea ...
S Guerin, S Blanchon, Q de Halleux, V Bayon, T Ferry   +4 more
doaj   +1 more source

The impact of positive airway pressure on midface growth: a literature review

Brazilian Journal of Otorhinolaryngology, 2020
Introduction: The treatment of obstructive sleep apnea with positive airway pressure in children is restricted due to concerns that it could affect maxilla growth over time.
Rita Catia Brás Bariani, Thais Moura Guimarães, Mario Cappellette, Junior, Gustavo Moreira, Reginaldo Raimundo Fujita   +4 more
doaj   +1 more source