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132 studies found for:    "branchio-oculo-facial syndrome" OR "Craniofacial Abnormalities"
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Rank Status Study
1 Recruiting 3D-Printed CPAP Masks for Children With Obstructive Sleep Apnea
Conditions: Sleep Apnea, Obstructive;   Craniofacial Abnormalities;   Pediatric Disorder
Intervention: Device: Personalized continuous positive airway pressure (CPAP) mask
2 Completed Bone Regeneration Using Bone Marrow Stromal Cells
Conditions: Bone Disease;   Craniofacial Abnormality;   Healthy
Intervention:
3 Unknown  3D Imaging of Hard and Soft Tissue in Orthognathic Surgery
Conditions: Craniofacial Abnormalities;   Maxillofacial Abnormalities;   Cleft Lip;   Cleft Palate
Interventions: Procedure: 3D stereophotogrammetric imaging;   Procedure: 3D CT-imaging with cone-beam CT;   Procedure: Case report form
4 Recruiting Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions
Conditions: Arthrogryposis;   Craniofacial Abnormalities;   Posttraumatic Stress Disorder;   Depressive Disorder
Interventions: Other: PTSD Checklist-Specific;   Other: Modified Flanagan Quality of Life Scale;   Other: Center for Epidemiologic Studies Depression Scale;   Other: Functional Enquiry Form;   Other: Strength, Joint ROM, Girth and Length Measurements;   Other: Study Physical Examination;   Other: PTSD, Depression, and FSS-Focused Examination;   Other: Freeman-Sheldon Specific Quality of Life Survey;   Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels
5 Recruiting Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions
Conditions: Arthrogryposis;   Craniofacial Abnormalities
Interventions: Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels;   Procedure: Physiological Stress Test;   Other: Functional Enquiry Form;   Other: Strength, Joint ROM, Girth and Length Measurements;   Other: Study Physical Examination;   Other: Observational Gait Analysis;   Other: Mental Health Interview
6 Recruiting Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Conditions: Arthrogryposis;   Craniofacial Abnormalities
Interventions: Other: STOP-FSS Survey;   Other: Medical Records Review
7 Completed Stereo Photogrammetry Imaging in Normal Volunteers and Patients With Head and Facial Malformations
Condition: Craniofacial Abnormalities
Intervention:
8 Unknown  FaceBase Biorepository
Conditions: Craniofacial Abnormalities;   Cleft Lip;   Cleft Palate
Intervention:
9 Completed Genetic Analysis of Craniofrontonasal Syndrome
Conditions: Craniofrontonasal Syndrome;   CFNS
Intervention:
10 Active, not recruiting Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
Condition: Rubinstein-Taybi Syndrome
Interventions: Drug: sodium valproate;   Drug: Placebo
11 Completed A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients
Condition: Treatment for Basal Cell Carcinomas (BCCs) in Gorlin Syndrome Patients
Interventions: Drug: Placebo;   Drug: LDE225;   Drug: LDE225 0.25%;   Drug: LDE225 0.75%
12 Completed Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type
Conditions: EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT;   CHROMOSOME 2q31.2 DELETION SYNDROME
Interventions: Drug: celiprolol;   Drug: Control
13 Not yet recruiting PREPL in Health and Disease
Conditions: Hypotonia-Cystinuria Syndrome;   Muscle Hypotonia;   Healthy Volunteers;   Dwarfism, Growth Hormone Deficiency;   Obesity;   Prader-Willi Syndrome
Interventions: Procedure: Blood draw;   Procedure: muscle biopsy
14 Unknown  Effect of the Innovated Seifi's Functional Appliance on Skeletal and Dentoalveolar Changes of Class II/ 1, Deep Bite
Conditions: Orthodontic Appliance Design;   Retrognathism;   Malocclusion, Angle Class II;   Deepbite
Intervention: Device: Seifi's Functional
15 Recruiting Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Intervention: Dietary Supplement: Cholesterol supplementation
16 Unknown  The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Conditions: Velocardiofacial Syndrome;   Williams Syndrome;   Fragile X Syndrome
Intervention: Drug: methylphenidate, fluoxetin, risperidone
17 Recruiting Acellular Dermal Matrix in Primary Furlow Palatoplasty
Condition: Cleft Palate
Intervention: Device: Acellular Dermal Matrix
18 Completed Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
Condition: Smith-Lemli-Opitz Syndrome
Intervention:
19 Completed Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
Conditions: Williams Syndrome;   Angelman Syndrome;   Prader-Willi Syndrome;   Shprintzen Syndrome;   Smith-Magenis Syndrome;   DiGeorge Syndrome;   Chromosome Abnormalities
Intervention:
20 Recruiting Timing of Primary Surgery for Cleft Palate
Condition: Cleft Palate
Intervention: Procedure: primary surgery for cleft palate

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