Results 41 to 50 of about 28,866 (195)

MIDFACE DISTRACTION OSTEOGENESIS: A CASE REPORT

open access: yesPakistan Armed Forces Medical Journal, 2018
Treatment of midface hypoplasia in an adult patient is always a challenge. Rapid advances in orthognathic surgery have now made it possible to treat severe dentofacial deformities that were once only managed by orthodontic camouflage1.
Uzair Luqman   +3 more
doaj   +2 more sources

Evidence for functional convergence between LZTS2 and DYRK1A during craniofacial development

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Precise control of DYRK1A dosage is essential for embryonic development, including craniofacial morphogenesis. While LZTS2 is among the most consistently identified DYRK1A‐interacting proteins, its roles in embryonic development remain incompletely understood, and its potential contribution to craniofacial development has not been ...
Nicole Cheng   +3 more
wiley   +1 more source

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

open access: yesClinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti   +9 more
wiley   +1 more source

Elevated Nocturnal CO2 and Autonomic Dysfunction in Children With Down Syndrome

open access: yesJournal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Sleep‐disordered breathing (SDB) frequently complicates Down syndrome (DS). Beyond upper airway obstruction, emerging evidence suggests an autonomic nervous system (ANS) dysfunction affecting CO2 regulation. The aim of this study was to investigate nocturnal gas exchanges in children with DS and compare them to what has been ...
Jessica Taytard   +12 more
wiley   +1 more source

Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosis

open access: yesOrphanet Journal of Rare Diseases, 2018
Background Infants and children with syndromic craniosynostosis (SCS), such as Apert-, Crouzon- or Pfeiffer syndrome, are prone to sleep disordered breathing (SDB) including obstructive sleep apnea and upper airway resistance syndrome (OSAS, UARS ...
Silvia Müller-Hagedorn   +7 more
doaj   +1 more source

Abstract 122: Internal Distraction Resulted in Improved Patient Reported Outcomes for Midface Hypoplasia [PDF]

open access: yesPlast Reconstr Surg Glob Open, 2017
Hindin D   +5 more
europepmc   +2 more sources

3D Analysis of Mandibular and Glenoid Fossa Responses to Bone‐Anchored Maxillary Protraction in Patients With UCLP

open access: yesOrthodontics &Craniofacial Research, EarlyView.
ABSTRACT Introduction Bone‐anchored maxillary protraction (BAMP) has been increasingly used to correct midface deficiency and Class III malocclusion in patients with unilateral cleft lip and palate (UCLP). However, its three‐dimensional (3D) effects on the mandible remain insufficiently explored.
Jeroen Wagemans   +2 more
wiley   +1 more source

Congenital partial arhinia: a case report

open access: yesJournal of Medical Case Reports, 2007
Congenital arhinia is an extremely rare anomaly consisting of an absence of external nasal structures and nasal passages. Fewer than 30 cases have been reported.
Akkuzu Guzin   +4 more
doaj   +1 more source

Female infant with apert syndrome and high imperforate anus without fistula

open access: yesJournal of Pediatric Surgery Case Reports, 2021
Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly of the hands and feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly.
Setya Mithra Hariastuti   +3 more
doaj   +1 more source

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

open access: yesThe Anatomical Record, Volume 309, Issue 11, Page 3375-3396, November 2026.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore   +5 more
wiley   +1 more source

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