137 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 Completed Stereo Photogrammetry Imaging in Normal Volunteers and Patients With Head and Facial Malformations
Condition: Craniofacial Abnormalities
Intervention:
4 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
5 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
6 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
7 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
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 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%
11 Completed Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
Condition: Rubinstein-Taybi Syndrome
Interventions: Drug: sodium valproate;   Drug: Placebo
12 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
13 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
14 Recruiting Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome
Conditions: Silver Russell Syndrome;   Prader-Willi Syndrome
Interventions: Drug: Anastrozole;   Drug: Placebo
15 Active, not recruiting National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
Conditions: Marfan Syndrome;   Turner Syndrome;   Ehlers-Danlos Syndrome;   Loeys-Dietz Syndrome;   FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic Mutation;   Bicuspid Aortic Valve Without Known Family History;   Bicuspid Aortic Valve With Family History;   Bicuspid Aortic Valve With Coarctation;   Familial Thoracic Aortic Aneurysm and Dissections;   Shprintzen-Goldberg Syndrome;   Other Aneur/Diss of Thoracic Aorta Not Due to Trauma, <50yo;   Other Congenital Heart Disease
Intervention:
16 Not yet recruiting Ambrisentan in Single Ventricle
Conditions: Hypoplastic Left Heart Syndrome;   Hypoplastic Right-sided Heart Complex
Intervention: Drug: Ambrisentan
17 Unknown  Genetic Modifiers for 22q11.2 Syndrome
Condition: 22q11.2 Deletion Syndrome
Intervention: Other: Observation
18 Recruiting Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Conditions: Smith-Lemli-Opitz Syndrome;   Cone-Rod Dystrophy;   Hearing Loss
Interventions: Drug: Antioxidants;   Drug: Cholesterol
19 Enrolling by invitation Functional Modeling of the Pediatric Airway
Conditions: Subglottic Stenosis (SGS);   Pierre Robin Sequence (PRS);   Micrognathia.;   Normal Controls From CT Scans of the Upper Airway.
Intervention:
20 Recruiting Newborn Head Molding and Later Asymmetries
Condition: Plagiocephaly
Interventions: Behavioral: Newborns with preventive caring advices;   Other: Newborns with normal caring advices

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Indicates status has not been verified in more than two years