127 studies found for:    "branchio-oculo-facial syndrome" OR "Craniofacial Abnormalities"
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"branchio-oculo-facial syndrome" OR "Craniofacial Abnormalities" (127 records)
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Rank Status Study
1 Completed Bone Regeneration Using Bone Marrow Stromal Cells
Conditions: Bone Disease;   Craniofacial Abnormality;   Healthy
Intervention:
2 Completed Stereo Photogrammetry Imaging in Normal Volunteers and Patients With Head and Facial Malformations
Condition: Craniofacial Abnormalities
Intervention:
3 Unknown  FaceBase Biorepository
Conditions: Craniofacial Abnormalities;   Cleft Lip;   Cleft Palate
Intervention:
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 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 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 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
8 Completed Genetic Analysis of Craniofrontonasal Syndrome
Conditions: Craniofrontonasal Syndrome;   CFNS
Intervention:
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 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 Active, not recruiting Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
Condition: Rubinstein-Taybi Syndrome
Interventions: Drug: sodium valproate;   Drug: Placebo
12 Recruiting Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome
Conditions: Genetic Disorder;   Noonan Syndrome
Intervention: Drug: somatropin
13 Unknown  An Investigation for the Optimal Timing of a Cleft Palate Repair
Condition: Cleft Palate
Intervention: Procedure: Palatoplasty
14 Recruiting SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation
Condition: Smith-Lemli-Opitz Syndrome
Interventions: Drug: Simvastatin;   Dietary Supplement: Lactose
15 Active, not recruiting Sensory Retraining Facilitates Sensory Recovery After Mandibular Nerve Injury
Conditions: Injury of Trigeminal Nerve;   Surgery;   Mandibular Prognathism
Intervention: Behavioral: sensory retraining protocol
16 Recruiting UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
Conditions: Hepato/Renal Fibrocystic Disease;   Autosomal Recessive Polycystic Kidney Disease;   Joubert Syndrome;   Bardet Biedl Syndrome;   Meckel-Gruber Syndrome;   Congenital Hepatic Fibrosis;   Caroli Syndrome;   Oro-Facial-Digital Syndrome Type I;   Nephronophthisis;   Glomerulocystic Kidney Disease
Intervention:
17 Completed Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome
Condition: Ear Malformations in the Velocardiofacial Syndrome
Intervention:
18 Completed
Has Results
Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Intervention: Drug: Dietary cholesterol supplementation
19 Completed Orthodontic Retention on the Maxillary Stability After SARME Using Laser Scanner
Condition: Maxillary Hypoplasia
Interventions: Procedure: Surgically Assisted Rapid Maxillary Expansion (SARME);   Other: Laser Scanner
20 Enrolling by invitation Observational Prospective Study on Patients Treated With Norditropin®
Conditions: Growth Hormone Disorder;   Growth Hormone Deficiency in Children;   Adult Growth Hormone Deficiency;   Genetic Disorder;   Turner Syndrome;   Foetal Growth Problem;   Small for Gestational Age;   Chronic Kidney Disease;   Chronic Renal Insufficiency;   Noonan Syndrome
Intervention: Drug: somatropin

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