51 studies found for:    Open Studies | "Craniofacial Abnormalities"
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Rank Status Study
1 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
2 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
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 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 Markers of Defective Membrane Remodelling in Scott-like Syndromes
Conditions: Unexplained Isolated Provoked Hemorrhages;   Familial Bleeding Disorder;   Scott Syndrome
Intervention: Other: Blood withdrawal
7 Unknown  Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Conditions: DiGeorge Syndrome;   Shprintzen Syndrome;   Chromosome Abnormalities;   Abnormalities, Multiple;   Conotruncal Cardiac Defects
Intervention:
8 Recruiting Patient Education Before Orthognathic Surgery
Conditions: Malocclusion;   Anxiety;   Micrognathism;   Prognathism
Intervention: Other: Booklet - Preoperative Educational
9 Recruiting Microcephaly Genetic Deficiency in Neural Progenitors
Condition: Microcephaly
Intervention:
10 Recruiting Preoperative Antibiotics Study
Condition: Cleft Palates
Interventions: Drug: Unasyn;   Other: saline solution
11 Recruiting Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
Conditions: Dyskeratosis Congenita;   Hoyeraal Hreidarsson Syndrome;   Revesz Syndrome;   Aplastic Anemia
Interventions: Biological: alemtuzumab;   Drug: Fludarabine;   Drug: Cyclosporins;   Drug: Mycophenolate mofetil
12 Unknown  Genetics and Psychopathology in the 22q11 Deletion Syndrome
Condition: Chromosome 22q11.2 Deletion Syndrome
Intervention:
13 Not yet recruiting Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome.
Condition: 22q11 Deletion Syndrome
Interventions: Dietary Supplement: omega-3 PUFAs;   Other: Standard care;   Dietary Supplement: placebo
14 Unknown  The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Conditions: Velocardiofacial Syndrome;   Williams Syndrome;   Fragile X Syndrome
Intervention: Drug: methylphenidate, fluoxetin, risperidone
15 Recruiting Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial
Condition: Craniosynostosis Patients Undergoing Distraction Osteotomy
Interventions: Drug: Tranexamic Acid;   Drug: normal saline
16 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
17 Recruiting Clinical and Genetic Studies on Holoprosencephaly
Condition: Holoprosencephaly
Intervention:
18 Recruiting Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene
Condition: Orofaciodigital Syndromes
Intervention: Biological: Sampling of blood
19 Unknown  Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Conditions: DiGeorge Syndrome;   22q11.2 Deletion Syndrome
Intervention:
20 Not yet recruiting IV Acetaminophen in Children Undergoing Palatoplasty
Condition: Cleft Palate
Interventions: Drug: IV acetaminophen;   Drug: Placebo

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