The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.

Quantifying the risks: a systematic review and proportional meta-analysis of the perioperative complications of posterior cranial vault distraction osteogenesis in patients with craniosynostosis.

P38α MAPK-induced senescence in cranial suture progenitor cells promotes craniosynostosis.

[Selection of compression-distraction device type for mandibular hypoplasia based on mandible morphometric parameters].

Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers-Danlos Syndrome.

Eed controls craniofacial osteoblast differentiation and mesenchymal proliferation from the neural crest.

New Lens On Congenital Mild Bone Fragility: a Novel Col1a1 Knockout Mouse Model for Osteogenesis Imperfecta Type 1.

Craniofacial Microsomia With Tongue Cleft: Embryological Mechanisms and Clinical Implications From Three Rare Cases.

A pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.

Co-occurrence of Congenital Osteogenesis Imperfecta and Maternal Antiphospholipid Syndrome: A Novel Case Report.

Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.

A retrospective study on the prevalence, management, and outcomes of congenital heart diseases in children at Edward Francis small teaching hospital, banjul, the Gambia.

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.

Obstructive Sleep Apnoea in Patients with Treacher Collins Syndrome-A Narrative Review.

Indirect Hexapod Frame-assisted Reduction of Chronic Radial Head Dislocations in Children: 20-year Experience and Technical Tips.

Short-term and four-year feeding and respiratory outcomes of infants with micrognathia.

A Comprehensive Approach to Robin Sequence.

Anesthetic management in pregnancy with osteogenesis imperfecta type XI: A comprehensive case report.

Loss of KAT6B causes premature ossification and promotes osteoblast differentiation during development.

Emerging Trends on the Growing Rods in Scoliosis in the Last 20 Years: A Bibliometric Analysis from 2003 to 2024.

Robin Sequence: Neonatal Management.

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

Posterior Column Release and Lengthening with a Magnetic Growing Rod Construct in Severe Congenital Thoracic Fusion: A Report of 2 Cases.

First Trimester Fetal Clubfoot: A Novel Presentation of Severe Osteogenesis Imperfecta.

Bruck syndrome in pregnancy.

Mixed reality guided advancement osteotomies in congenital craniofacial malformations.

[The condition of the mandibular bone regenerate in the remote period after compression-distraction osteosynthesis].

Congenital Contractures and Fractures: A Variant of Bruck Syndrome Type 2.

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.

Jaw Thrust: A Simple Predictor of Success in Mandibular Distraction Osteogenesis.

A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle.

Long-term mandibular growth in patients with airway obstruction treated with mandibular distraction.

Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.

A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report.

Effects of Seipin on Mouse Mesenchymal Stem Cell Osteo-Adipogenic Balance.

Implementation of Mandibular Distraction Osteogenesis for Patients With Pierre Robin Sequence in a Developing Country Through International Collaboration: A Paradigm for Success.

[Features and results of surgical rehabilitation of hearing loss in osteogenesis imperfecta].

BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.

A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.

Left Main Spontaneous Coronary Artery Dissection in a Patient With Osteogenesis Imperfecta: Use of Multimodal Imaging.

An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review.

LRP5, Bone Mass Polymorphisms and Skeletal Disorders.

Spectrum of Disease in Hospitalized Newborns with Congenital Micrognathia: A Cohort of 3,236 Infants at North American Tertiary-Care Intensive Care Units.

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2.

Characteristics of Scoliosis in Mice Induced by Chondrocyte-specific Inactivation of L-type Amino Acid Transporter 1.

Bilateral Distal Humeral Physeal Separation-From Birth Trauma to Family Trauma.

Defects of the spliceosomal gene SNRPB affect osteo- and chondro-differentiation.

BMP2 is a potential causative gene for isolated dextrocardia situs solitus.

Long-Term Follow-Up of Hypoglossia-Hypodactylia Syndrome: A Case Report.

Focuses, Trends, and Developments in Craniofacial Microsomia From 1992 to 2022: A Bibliometric Analysis.

Feeding Outcomes After Mandibular Distraction for Airway Obstruction in Infants.

Cranial Neural Crest Cells Contribution to Craniofacial Bone Development and Regeneration.

ROR2-Related Skeletal Dysplasia Reveals Disrupted Chondrocyte Polarity through Modulation of BMP/TGF-β Signaling.

A case of osteogenesis imperfecta caused by a COL1A1 variant, coexisting with pituitary stalk interruption syndrome.

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.

Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem Cells.

Is a Difficult Airway Team Needed for Intubation at Removal of Mandibular Distraction Devices for Infants With Robin Sequence?

The etiology, clinical features, and treatment options of hemifacial microsomia.

Bruck Syndrome: Beyond the Obvious.

Ganglioside GD1a enhances osteogenesis by activating ERK1/2 in mesenchymal stem cells of Lmna mutant mice.

A Periodic Case of Maxillo-Nasal Dysplasia or Binder Syndrome Successfully Operated With Bilateral Le Fort II Osteotomy With Distraction Osteogenesis.

Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage.

Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.

Cadaveric Bone Allografting for Severe Mandibular Hypoplasia With Alleviation of Upper Airway Obstruction in Goldenhar Syndrome.

Type IA Oromandibular-Limb Hypogenesis Syndrome: A Case Report and A Case Update.

The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.

Planned Preterm Delivery and Treatment of Severe Infantile FEVR With Osteoporosis-Pseudoglioma Syndrome.

Effects of mandibular distraction osteogenesis on anesthetic implications in children with hemifacial microsomia.

Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome.

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.

Controversies in the Management of Temporomandibular Joint Ankylosis Using Distraction Osteogenesis - A Systematic Review.

Neonatal Mandibular Distraction.

Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy.

Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.

[Analysis of LRP5 gene variants in a Chinese pedigree affected with Osteoporosis-pseudoglioma syndrome].

Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.

New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.

Characterization of Phenotypes and Treatment Modalities in Patients With Treacher-Collins Syndrome.

Aetiology, diagnosis, and treatment of brachymetatarsia: a narrative review.

Comprehensive management of Crouzon syndrome: A case report with three-year follow-up.

A Comparison of Weight Gain Following Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion in the Treatment of Robin Sequence.

Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence.

Deficiency of Lipin2 Results in Enhanced NF-κB Signaling and Osteoclast Formation in RAW-D Murine Macrophages.

Abnormal Bone Collagen Cross-Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations.

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

Tooth Development Following Mandibular Distraction Osteogenesis in Neonates With Pierre Robin Sequence.

The Effect of Proximal Anchor Choice During Distraction-based Surgeries for Patients With Nonidiopathic Early-onset Scoliosis: A Retrospective Multicenter Study.

Robinow syndrome in a newborn presenting with hydrocephalus and craniosynostosis.

Brachymetacarpia and brachymetatarsia: do we need to operate?

Long-term outcomes after phalangeal distraction lengthening in patients with constriction band syndrome.

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.

Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis.

Surgical Management of Sinus Pericranii With Crouzon Syndrome.

Non-invasive Ventilation and CPAP Failure in Children and Indications for Invasive Ventilation.

Infant mandibular distraction in absence of ascending ramus: case series.

CLASSIFICATION AND MANAGEMENT OF HEMIFACIAL MICROSOMIA: A LITERATURE REVIEW.

Simulation Surgery Using 3D 3-layer Models for Congenital Anomaly.

Temporomandibular Joint Dysplasia in Cranio-Maxillofacial Dysplasia: A Retrospective Study. Guideline Treatment Proposal.

Periosteal new bone formation in Klippel-Trénaunay syndrome: a case report.

Is Intensive Care Unit Admission Necessary After Removal of Mandibular Distraction Devices in Infants With Robin Sequence?

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome.

Development and surgical application of a custom implant that enables a vertical vector of mandibular distraction.

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.

Hemifacial microsomia managed by distraction osteogenesis: A clinicoradiological report.

Vertical Distraction for the Treatment of Congenital Syngnathia.

The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology.

Molecular alterations in the extracellular matrix in the brains of newborns with congenital Zika syndrome.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].

Airway management in children with hemifacial microsomia: a restropective study of 311 cases.

Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis.

Weight gain in infants with Pierre Robin sequence.

Temporomandibular Joint Ankylosis in Pediatric Patients With Craniofacial Differences: Causes, Recurrence and Clinical Outcomes.

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.

An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.

Temporomandibular Joint Ankylosis Following Mandibular Distraction Osteogenesis: A Dreadful Complication.

Distraction-Based Surgeries Increase Spine Length for Patients With Nonidiopathic Early-Onset Scoliosis-5-Year Follow-up.

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Dchs1-Fat4 regulation of osteogenic differentiation in mouse.

Long-term Prognosis of Mandibular Distraction in 3 Cases of Hypoglossia-Hypodactyly Syndrome without Extremity Anomalies.

Krüppel-like factor 3 inhibition by mutated lncRNA Reg1cp results in human high bone mass syndrome.

Risk Factors for Perioperative Respiratory Failure following Mandibular Distraction Osteogenesis for Micrognathia: A Retrospective Cohort Study.

Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses.

Significance of the Tks4 scaffold protein in bone tissue homeostasis.

Three-dimensional printing of surgical guides for mandibular distraction osteogenesis in infancy.

Treacher Collins Syndrome.

Genetic interactions between Ror2 and Wnt9a, Ror1 and Wnt9a and Ror2 and Ror1: Phenotypic analysis of the limb skeleton and palate in compound mutants.

Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation.

Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.

An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.

Survival and healthcare utilization of infants diagnosed with lethal congenital malformations.

The accuracy of virtual-surgical-planning-assisted treatment of hemifacial microsomia in adult patients: distraction osteogenesis vs. orthognathic surgery.

Comprehensive consideration and design with the virtual surgical planning-assisted treatment for hemifacial microsomia in adult patients.

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.

Applications of Computer Technology in Complex Craniofacial Reconstruction.

Overactive autophagy is a pathological mechanism underlying premature suture ossification in nonsyndromic craniosynostosis.

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.

Fusion of cervical vertebrae from a basal archosauromorph from the Middle Triassic Denwa Formation, Satpura Gondwana Basin, India.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1.

Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.

Osteogenesis of Crouzon-Mutated Cells in an Experimental Model.

Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.

Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome.

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

Increased microRNA-93-5p inhibits osteogenic differentiation by targeting bone morphogenetic protein-2.

Ten year follow-up of Jarcho-Levin syndrome with thoracic insufficiency treated by VEPTR and MCGR VEPTR hybrid.

Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye.

Simulation-guided navigation for vector control in pediatric mandibular distraction osteogenesis.

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.

Craniofacial fibrous dysplasia: A 10-case series.

Combined Bimaxillary Distraction Osteogenesis Associated with Orthognathic Surgery for Hemifacial Microsomia in Adults.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.

Repair of Bicuspid Aortic Valve Syndrome with Anomalous Right Coronary Artery in Osteogenesis Imperfecta.

Reconstruction of Congenital Mandibular Hypoplasia With Microvascular Free Fibula Flaps in the Pediatric Population: A Paradigm Shift.

The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages.

Crouzon syndrome: Virtual planning of surgical treatment by application of internal distractors.

Osteogenesis imperfecta and clubfoot-a rare combination: Case report and review of the literature.

A case of mandible hypoplasia treated with autologous bone graft from mandibular symphysis: Expression of VEGF and receptors in bone regeneration.

Dihydroorotate dehydrogenase depletion hampers mitochondrial function and osteogenic differentiation in osteoblasts.

Early onset scoliosis with intraspinal anomalies: management with growing rod.

Bimaxillary Orthognathic Approach to Correct Skeletal Facial Asymmetry of Hemifacial Microsomia in Adults.

[Distraction Osteogenesis is an Effective Method to Lengthen Digits in Congenital Malformations].

[Strategies in Treatment of Congenital Hand Malformation].

Total Airway Reconstruction in the Neonate: Combined Mandibular Distraction and Slide Tracheoplasty for Multiple Level Airway Obstruction.

Deep Venous Thrombosis in Teen With Crouzon Syndrome Post-Le Fort III Osteotomy With Rigid External Distraction.

Fast and Early Mandibular Osteodistraction: The Long-Term Follow-Up of Mandibular Distraction Osteogenesis on Teeth Position.

Prevalence of Cardiovascular Disease and Cardiac Symptoms: Left and Right Ventricular Function in Adults With Osteogenesis Imperfecta.

Fibrillin microfibrils in bone physiology.

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

Rib-based Distraction Surgery Maintains Total Spine Growth.

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome.

Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.

Mandibular distraction for Robin sequence associated with laryngomalacia.

Goldenhar Syndrome with Tessier's 7 Cleft: Report of a Case.

Surgical guide assistant mandibular distraction osteogenesis and sagittal split osteotomy in the treatment of hemifacial microsomia.