An observational study in Freeman-Burian Syndrome, Freeman-Sheldon Syndrome and Whistling Face Syndrome, sponsored by Dufresne, Craig, MD, PC. Status unknown at 1 site in United States. Per ClinicalTrials.gov, last updated 2022-07-19.
Sponsored by Dufresne, Craig, MD, PC · Observational
The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between Freeman-Burian syndrome (formerly, Freeman-Sheldon or whistling face syndrome), Sheldon-Hall syndrome, and distal arthrogryposis types 3, and 1.
The approximate cumulative total time for study-related activities will be 3 hours, including email communication, survey completion, and a medical interview.
The study will involve completing 6 short ½ to 1-page surveys and participating in a medical interview. Participants may be asked to provide medical records for review. All study-related activities will take place remotely, and no travel is required.
According to the only study of patients and a recent study of individual case reports, Freeman-Burian syndrome (FBS) may be over-diagnosed by 33-66%, and it is most often confused with Sheldon-Hall syndrome and distal arthrogryposis (DA) types 3 and 1. Unfortunately, while these conditions are different from FBS, many think of them as being less severe versions of FBS. This is not true. FBS is a skull and face syndrome, while Sheldon-Hall syndrome and DA types 1 and 3 are syndromes of the arms, legs, hands, and feet that (except DA type 1) may have mild face deformities. It is important to understand this difference, FBS does not respond well to treatment. The other syndromes generally do respond well to treatment. To improve diagnosis and treatment, it is important to understand factors contributing to an accurate diagnosis and treatment outcome. To provide better evidence for these being very different syndromes, it also is important to compare the above areas of health between people with all of these syndromes. It is hoped the study will help improve treatment and identify areas for further research.
22 studies on the registry are indexed under Craniofacial Abnormalities; 3 are open to participants now.
This study's planned enrollment of 20 is below the median of 77 across 12 observational studies indexed under Craniofacial Abnormalities.
Browse Craniofacial Abnormalities studies →Dufresne, Craig, MD, PC is the lead sponsor of 4 studies on the registry; 1 is open to participants now.
Counted across the registry records on this site, refreshed daily.
There are no patient enrollment restrictions based on gender, ethnicity, religion, socio-economic status, geographical location, or clinical setting.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients who have all features required by the Stevenson criteria, including: very small mouth (microstomia); whistling-face appearance (pursed lips); "H" or "V" shaped chin dimple; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Other: Guided Health History for Freeman-Burian Syndrome Questionnaire · Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview · Other: Medical Records Review · Other: PTSD Checklist for DSM-5 · Other: Modified Flanagan Quality of Life Scale · Other: Center for Epidemiologic Studies Depression Scale · Other: Review of Systems · Other: FACE-Q | Craniofacial - Appearance of the Face · Other: FACE-Q | Craniofacial - Appearance Distress · Other: FACE-Q | Craniofacial - Facial Function
Patients who have only the face and skull physical findings required by the Stevenson criteria, including: very small mouth (microstomia), whistling-face appearance (pursed lips), "H" or "V" shaped chin dimple, very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases).
Other: Guided Health History for Freeman-Burian Syndrome Questionnaire · Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview · Other: Medical Records Review · Other: PTSD Checklist for DSM-5 · Other: Modified Flanagan Quality of Life Scale · Other: Center for Epidemiologic Studies Depression Scale · Other: Review of Systems · Other: FACE-Q | Craniofacial - Appearance of the Face · Other: FACE-Q | Craniofacial - Appearance Distress · Other: FACE-Q | Craniofacial - Facial Function
Patients who have the face and skull physical findings required by the Stevenson criteria and some but not all required joint problems.
Other: Guided Health History for Freeman-Burian Syndrome Questionnaire · Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview · Other: Medical Records Review · Other: PTSD Checklist for DSM-5 · Other: Modified Flanagan Quality of Life Scale · Other: Center for Epidemiologic Studies Depression Scale · Other: Review of Systems · Other: FACE-Q | Craniofacial - Appearance of the Face · Other: FACE-Q | Craniofacial - Appearance Distress · Other: FACE-Q | Craniofacial - Facial Function
Patients who have all features required by the Stevenson criteria, including: small mouth (not microstomia); neck webbing (pterygium colli); small but prominent chin; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Other: Guided Health History for Freeman-Burian Syndrome Questionnaire · Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview · Other: Medical Records Review · Other: PTSD Checklist for DSM-5 · Other: Modified Flanagan Quality of Life Scale · Other: Center for Epidemiologic Studies Depression Scale · Other: Review of Systems · Other: FACE-Q | Craniofacial - Appearance of the Face · Other: FACE-Q | Craniofacial - Appearance Distress · Other: FACE-Q | Craniofacial - Facial Function
Patients with features consistent with this diagnosis, including restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Other: Medical Records Review · Other: PTSD Checklist for DSM-5 · Other: Modified Flanagan Quality of Life Scale · Other: Center for Epidemiologic Studies Depression Scale · Other: Review of Systems
Patients with features consistent with this diagnosis, including: gap in the roof of the mouth (cleft palate); drooping eyelid (blepharoptosis); and spine curve problems; and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Other: Medical Records Review · Other: PTSD Checklist for DSM-5 · Other: Modified Flanagan Quality of Life Scale · Other: Center for Epidemiologic Studies Depression Scale · Other: Review of Systems · Other: FACE-Q | Craniofacial - Appearance of the Face · Other: FACE-Q | Craniofacial - Appearance Distress · Other: FACE-Q | Craniofacial - Facial Function
Completed during the interview. The Guided Health History for Freeman-Burian Syndrome Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
Completed during the interview. Freeman-Burian syndrome Semi-Structured Quality of Life Interview is a quality of life interview for Freeman-Burian syndrome, taking into consideration individual's total health.
Review of medical records will be used, along with Guided Health History for Freeman-Burian Syndrome Questionnaire to assess patient histories and outcomes.
Also known as: treatment records review, review of patient notes, patient chart review, review of clinical data
Completed by patients before the interview. The PTSD Checklist for DSM-5 is a 20-item questionnaire. Each item is rated 0-4, with 0 being "Not at all" and 4 being "Extremely". Lower scores suggest the person may be experiencing fewer symptoms.
Completed by patients before the interview. The Modified Flanagan Quality of Life Scale is a 16-item survey designed for use in persons with chronic illness. Each item is rated 1-7, with 1 being "Terrible" and 7 being "Delighted". Higher scores suggest the person may be experiencing a better quality of life.
Completed by patients before the interview. The Center for Epidemiologic Studies Depression Scale is a 20-item survey that asks about depressive feelings and behaviours in the past week. Each item is rated 0-3, with 0 being "Rarely or none of the time (less than 1 day)" and 3 being "Most or all of the time (5-7 days)". Lower scores suggest the person may be experiencing fewer symptoms.
Completed during the interview. A review of systems is a checklist of medical problems.
Also known as: health history, medical history
Completed by patients. The FACE-Q \| Craniofacial - Appearance of the Face is a 9-item questionnaire. Each item is rated 1-4, with 1 being "Not at All" and 4 being "Very Much". Lower scores suggest the person may be less pleased with the appearance of their face.
Completed by patients. The FACE-Q \| Craniofacial - Appearance Distress is an 8-item questionnaire. Each item is rated 1-4, with 1 being "Always" and 4 being "Never". Lower scores suggest the person may be experiencing more distress related to the appearance of their face.
Completed by patients. The FACE-Q \| Craniofacial - Facial Function is a 10-item questionnaire. Each item is rated 1-3, with 1 being "I cannot do this" and 3 being "I can do this". Lower scores suggest the person may be experiencing more problems with facial muscle functioning.
Difference in intervention-related outcome rates between groups
Outcomes for all interventions are rated as either acceptable, unacceptable, or potentially harmful/harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Difference in diagnostic accuracy between groups
This is the percent of patients with a stated diagnosis re-screened by study investigators with the same diagnosis. Diagnostic information is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire and Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Difference in posttraumatic stress disorder symptoms between groups
Posttraumatic stress symptoms are assessed using the self-completed and validated PTSD Checklist for DSM-5, a 20-item questionnaire; each item is rated 0-4, with 0 being "Not at all" and 4 being "Extremely".
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in depressive symptoms between groups
Depressive symptoms are assessed using the self-completed and validated Center for Epidemiologic Studies Depression Scale.
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in quality-of-life between groups
Quality-of-life is scored using the self-completed Modified Flanagan Quality of Life Scale.
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in facial appearance satisfaction between groups
Facial appearance satisfaction is scored using the self-completed FACE-Q \| Craniofacial - Appearance of the Face.
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in facial appearance distress between groups
Facial appearance distress is scored using the self-completed FACE-Q \| Craniofacial - Appearance Distress.
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in facial muscle functioning symptoms between groups
Facial muscle functioning symptoms are scored using the self-completed FACE-Q \| Craniofacial - Facial Function.
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in diagnostic accuracy between specialities between all sub-types of Freeman-Burian syndrome and the other diagnosis groups (Sheldon-Hall syndrome, distal arthrogryposis type 3, and distal arthrogryposis type 1)
Diagnostic accuracy is the percent of patients with a stated diagnosis re-screened by study investigators with the same diagnosis. Specialities include: orthopedics, plastic surgery, anesthesia, pediatrics, and medical genetics. Diagnostic information is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire and Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Difference in head and face (craniofacial) surgery-related outcome rates between groups
Outcomes for all head and face (craniofacial) surgeries are rated as either acceptable, unacceptable, or harmful/potentially harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Difference in spine surgery-related outcome rates between groups
Outcomes for all spine surgeries are rated as either acceptable, unacceptable, or harmful/potentially harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Difference in foot and ankle surgery-related outcome rates between groups
Outcomes for all foot and ankle surgeries are rated as either acceptable, unacceptable, or harmful/potentially harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Difference in hand and wrist surgery-related outcome rates between groups
Outcomes for all hand and wrist surgeries are rated as either acceptable, unacceptable, or harmful/potentially harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Difference in other bone and joint surgery-related outcome rates between groups
Outcomes for other bone and joint surgeries are rated as either acceptable, unacceptable, or harmful/potentially harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Difference in general anesthesia-related complication rates between groups
The course of general anesthesia-related is rated as either routine, minor, complication, major complication, or failure. Information related to complications of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Difference in respiratory-related complication rates between groups
Respiratory-related complications are assessed using the Guided Health History for Freeman-Burian Syndrome Questionnaire. Additional information on physical findings is collected using the Review of Systems forms and from the Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Difference in rates of difficulty eating (chewing and swallowing) between groups
Difficulty eating (chewing and swallowing) is assessed using the Guided Health History for Freeman-Burian Syndrome Questionnaire. Additional information on physical findings is collected using the Review of Systems forms and from the Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Difference in rates of difficulty walking between groups
Difficulty walking is assessed using the Guided Health History for Freeman-Burian Syndrome Questionnaire. Additional information on physical findings is collected using the Review of Systems forms and from the Medical Records Review.
Time frame: During a single study interview, which lasts 1-2 hours
Qualitative difference in quality of life between groups
Qualitative assessment is done using the Freeman-Burian syndrome Semi-Structured Quality of Life Interview, a guided interview consisting of open-ended questions.
Time frame: During a single study interview, which lasts 1-2 hours
Plan to share: No — No individual participant data (IPD) will be made available to other researchers.
Started Jun 2022 (actual). Primary completion is estimated for Dec 2023, 18 months after the start.
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This study is status unknown, as verified in Jul 2022. You cannot join it, but the record below documents what was studied.
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Dufresne, Craig, MD, PC