130 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  FaceBase Biorepository
Conditions: Craniofacial Abnormalities;   Cleft Lip;   Cleft Palate
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 Completed Stereo Photogrammetry Imaging in Normal Volunteers and Patients With Head and Facial Malformations
Condition: Craniofacial Abnormalities
Intervention:
6 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
7 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
8 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
9 Completed Genetic Analysis of Craniofrontonasal Syndrome
Conditions: Craniofrontonasal Syndrome;   CFNS
Intervention:
10 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
11 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
12 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%
13 Active, not recruiting Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
Condition: Rubinstein-Taybi Syndrome
Interventions: Drug: sodium valproate;   Drug: Placebo
14 Not yet recruiting Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
Conditions: Marfan Syndrome;   Loeys-Dietz Syndrome;   Thoracic Aortic Aneurysm and Dissection Syndromes;   Ehlers-Danlos Type IV Syndrome;   Turner Syndrome
Intervention:
15 Completed Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
Conditions: DiGeorge Syndrome;   Velocardiofacial Syndrome;   22q11.2 Syndrome
Intervention:
16 Unknown  Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Conditions: DiGeorge Syndrome;   22q11.2 Deletion Syndrome
Intervention:
17 Not yet recruiting IV Acetaminophen in Children Undergoing Palatoplasty
Condition: Cleft Palate
Interventions: Drug: IV acetaminophen;   Drug: Placebo
18 Unknown  Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Intervention: Behavioral: diet
19 Withdrawn Endoscopic Treatment for Isolated, Single Suture Craniosynostosis
Condition: Craniosynostosis
Intervention: Procedure: Endoscopic strip craniectomy
20 Recruiting Genetic and Functional Analysis of Cherubism
Condition: Cherubism
Intervention:

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Indicates status has not been verified in more than two years