138 studies found for:    "branchio-oculo-facial syndrome" OR "Craniofacial Abnormalities"
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Study Details
Participant Details
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Dates
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 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 Unknown  FaceBase Biorepository
Conditions: Craniofacial Abnormalities;   Cleft Lip;   Cleft Palate
Intervention:
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 Completed Stereo Photogrammetry Imaging in Normal Volunteers and Patients With Head and Facial Malformations
Condition: Craniofacial Abnormalities
Intervention:
8 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
9 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
10 Completed 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 Genetic Analysis of Craniofrontonasal Syndrome
Conditions: Craniofrontonasal Syndrome;   CFNS
Intervention:
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  Oral Cleft Prevention Program
Conditions: Cleft Lip;   Cleft Palate
Intervention: Drug: Folic acid: 4 mg versus 0.4 mg per day
15 Recruiting Microcephaly Genetic Deficiency in Neural Progenitors
Condition: Microcephaly
Intervention:
16 Recruiting Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care
Condition: Craniosynostosis
Interventions: Other: qualitative survey;   Other: quantitative survey
17 Terminated Infection in DiGeorge Following CHD Surgery
Conditions: DiGeorge Syndrome;   Congenital Heart Defects
Intervention:
18 Terminated Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICU
Conditions: Plagiocephaly;   Scaphocephaly;   Brachycephaly
Intervention: Device: cranial cup device
19 Terminated Serum-Free Thymus Transplantation in DiGeorge Anomaly
Condition: DiGeorge Anomaly
Interventions: Biological: Serum Free Thymus Transplantation with Immunosuppression;   Other: Serum Free Thymus Transplantation without immunosuppression
20 Active, not recruiting Parathyroid and Thymus Transplantation in DiGeorge #931
Conditions: DiGeorge Syndrome;   Hypoparathyroidism;   Complete DiGeorge Syndrome
Intervention: Biological: Thymus/Parathyroid Transplantation

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Indicates status has not been verified in more than two years