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Protocol Number:
94-HG-0132
- Title:
The Phenotype and Etiology of Proteus Syndrome
- Number:
94-HG-0132
- Summary:
This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, the changes in symptoms over time, and the effects of the disease on patients.
Patients with Proteus syndrome and their parents may be eligible for this study. Parents will be studied, when possible, for comparison of molecular findings. Study candidates will have a medical history and physical examination, including X-rays and possibly other imaging tests, such as computerized tomography (CT), magnetic resonance imaging (MRI) and ultrasound. Other tests and examinations may be done if needed.
Those enrolled in the study will have will be interviewed or complete questionnaires, or both, about how their disease affects them. (Parents will be asked about their feelings about having a child with a rare disorder.) Patients will provide a small blood sample for research and may be asked to undergo biopsies from a normal area of skin and from a tumor.
- Sponsoring Institute:
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National Human Genome Research Institute (NHGRI)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA:
For Proteus Patients
All affected subjects should have the following general criteria: mosaic distribution of lesions, progressive course, and sporadic occurrence.
In addition, they should have either 1 from A, 2 from B or 3 from C.
A. Cerebriform connective tissue nevus.
B. Epidermal nevus, Disproportionate overgrowth, specific tumors before the age of 30 years (bilateral. ovarian cystadenomas or monomorphic parotid adenoma).
C. Dysregulated adipose tissue, Vascular malformations, Lung cysts, Facial phenotype.
The Proteus mail-in and Proteus case review subjects must meet the same eligibility standards as those who come to the clinical center and this will be determined by the review of the materials.
- Special Instructions:
Please send genetic summary pictures of affected body parts and immaging studies to Joyce Turner.
- Keywords:
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Mental Retardation
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Growth Retardation
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Uniparental Isodisomy
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Imprinting
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Multiple Abnormalities
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Proteus Syndrome
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Overgrowth
- Recruitment Keyword(s):
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None
- Condition(s):
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Growth Disorder
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Mental Retardation
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Multiple Abnormalies
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Human Genome Research Institute
- Contact(s):
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Patient Recruitment and Public Liaison Office
Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 Electronic Mail:prpl@mail.cc.nih.gov
- Citation(s):
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Characterization of short tandem repeats from thirty-one human telomeres
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Detection of a subtle rearrangement of chromosome 22 using molecular techniques
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Biesecker LG, Peters KF, Darling TN, Choyke P, Hill S, Schimke N, Cunningham M, Meltzer P, Cohen MM Jr Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia Am J Med Genet 1998 Oct 2;79(4)
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Bethesda, Maryland 20892. Last update: 01/17/2009
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