127 studies found for:    "branchio-oculo-facial syndrome" OR "Craniofacial Abnormalities"
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Rank Status Study
21 Completed Cleft Palate Surgery and Speech Development
Conditions: Cleft Lip;   Cleft Palate
Interventions: Procedure: Furlow double z-plasty palatoplasty palate repair;   Procedure: Von Langenbeck palatoplasty palate repair
22 Completed Evaluation of Patients With Unresolved Chromosome Abnormalities
Conditions: Abnormalities;   Failure to Thrive;   Mental Retardation;   Microcephaly
Intervention:
23 Recruiting Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Condition: Pregnant Women Requiring Amniocentesis
Intervention: Genetic: Methylation Index
24 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
25 Terminated Postnatal Human Cytomegalovirus (HCMV) Infection in Very Preterm Infants. Implications on Acute and Chronic Morbidity, Growth and Neurodevelopmental Outcomes. Part of the Study on "Nutrition, Growth and Development Among Very Preterm Infants"
Conditions: Neurodevelopmental Disabilities;   Hearing Loss;   Mental Retardation;   Microcephaly;   Chorioretinitis;   Growth
Intervention:
26 Not yet recruiting The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU
Conditions: Craniosynostosis Repair;   Untethering of Cord
Intervention:
27 Recruiting Timing of Primary Surgery for Cleft Palate
Condition: Cleft Palate
Intervention: Procedure: primary surgery for cleft palate
28 Completed Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
Conditions: Williams Syndrome;   Angelman Syndrome;   Prader-Willi Syndrome;   Shprintzen Syndrome;   Smith-Magenis Syndrome;   DiGeorge Syndrome;   Chromosome Abnormalities
Intervention:
29 Active, not recruiting Child and Infant Learning Project
Condition: Craniosynostosis
Intervention: Behavioral: neurobehavioral development
30 Recruiting Thymus Transplantation Safety-Efficacy
Conditions: Complete DiGeorge Anomaly;   DiGeorge Syndrome;   DiGeorge Anomaly;   Complete DiGeorge Syndrome
Interventions: Biological: Thymus  Tissue for Transplantation;   Procedure: Blood Draw;   Drug: Rabbit anti-thymocyte globulin;   Drug: Cyclosporine;   Drug: Tacrolimus;   Drug: Methylprednisolone or Prednisolone;   Drug: Basiliximab;   Drug: Mycophenolate mofetil
31 Recruiting Furlow Palatoplasty With Tensor Tenopexy
Conditions: Otitis Media;   Cleft Palate
Intervention: Procedure: palatoplasty
32 Active, not recruiting Phase I/II Thymus Transplantation With Immunosuppression #950
Conditions: DiGeorge Anomaly;   Complete DiGeorge Anomaly;   Complete Atypical DiGeorge Anomaly;   Complete DiGeorge Syndrome;   Complete Atypical DiGeorge Syndrome
Interventions: Biological: Thymus Tissue for Transplantation;   Other: Thymus Tissue and Parental Parathyroid Transplantation;   Procedure: Blood Draw;   Drug: Rabbit anti-thymocyte globulin;   Drug: Cyclosporine;   Drug: Tacrolimus;   Drug: Methylprednisolone or Prednisolone;   Drug: Daclizumab;   Drug: Mycophenolate mofetil
33 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
34 Completed Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Intervention: Drug: crystalline cholesterol oil-based suspension
35 Completed Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658
Conditions: Genetic Disorder;   Noonan Syndrome
Intervention: Drug: somatropin
36 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:
37 Completed Cleft Orthognathic Surgery Versus Distraction Osteogenesis - Which is Better?
Conditions: Cleft Lip and Palate;   Maxillary Hypoplasia
Interventions: Procedure: Orthognathic surgery;   Procedure: Distraction osteogenesis
38 Recruiting Changes Following the Treatment of Lower Jaw Protrusion Using Two Appliances
Condition: Class III Malocclusion in Growing Patients
Intervention: Device: Tandem Appliance
39 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
40 Active, not 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

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Indicates status has not been verified in more than two years