NIH Clinical Research Studies

Protocol Number: 94-HG-0132

Active Accrual, Protocols Recruiting New Patients

Title:
Etiology of Sporadic Multiple Congenital Anomaly Syndromes
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:
National Human Genome Research Institute (NHGRI)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): None

Eligibility Criteria:
INCLUSION CRITERIA:

For Proteus Patients

All affected sugjects 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. Connective tissue nevus.

B. Epidermal nevus, Disproportionate overgrowth, specific tumors before the age of 30 yrs (bilat. ovarian cystadenomas or monomorphic parotid adenoma).

C. Dysregulated adipose tissue, Vascular malformations, Facial phenotype.

The Proteus send-in 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:
Mental Retardation
Growth Retardation
Uniparental Isodisomy
Imprinting
Multiple Abnormalities
Proteus Syndrome
Overgrowth
Recruitment Keywords:
None
Conditions:
Growth Disorder
Mental Retardation
Multiple Abnormalies
Investigational Drug(s):
None
Investigational Device(s):
None

Contacts:
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

Citations:
Characterization of short tandem repeats from thirty-one human telomeres

Detection of a subtle rearrangement of chromosome 22 using molecular techniques

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)

Active Accrual, Protocols Recruiting New Patients

If you have:


Command Menu Bar

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home


Clinical Center LogoWarren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/16/2004

Search The Studies Help Questions