Patient case (clinical description): A 3-year-old girl is brought to the clinic by her parents for assessment of her short stature. Physical examination reveals short limbs and a relatively large head. She has a flat nasal bridge and a small midface. The girl's father exhibits similar physical features; however, her mother looks normal. The genetic testing reveals an autosomal dominant point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene consistent with achondroplasia in both father and the child. The girl has not received any treatment yet, and it is her first visit after immigration to the US. The other mental and developmental examinations are unremarkable.

Patient's own account: I just brought my little 3-year-old girl to the clinic to have her checked up by the doctor. I was worried sick because she was smaller than her classmates. The lovely doctor performed a physical exam and she told me that she has short limbs and a larger head. My girl also has a flat nasal bridge and a small midface. My baby just has the face of her father, unlike me! They performed some genetic testing on my child and my husband and found out that both my husband and her have a mutation of the FGFR3 gene, which led the doctor to diagnose them with dwarfism. My baby never received any treatment and it was our first visit to the doctor since we arrived in the US. The other tests regarding her mental and physical development were perfectly fine.

Clinical trial: SU5416 in Treating Patients With Advanced, Metastatic, or Recurrent Soft Tissue Sarcomas

Eligibility criteria:
DISEASE CHARACTERISTICS:

          -  Histologically confirmed advanced, metastatic, recurrent, or unresectable soft tissue
             sarcoma or gastrointestinal stromal tumor

          -  Measurable disease defined as lesions that can be measured in at least one dimension
             as at least 20 mm with conventional techniques or at least 10 mm with spiral CT scan

          -  Must have received prior chemotherapy with no response or progression after initial
             response

          -  Evidence of disease progression in past 3 months

          -  No CNS metastases or primary brain tumors

        PATIENT CHARACTERISTICS:

          -  Age: 18 and over

          -  Performance status: ECOG 0-1

          -  Life expectancy: At least 12 weeks

          -  WBC greater than 2,000/mm3

          -  Platelet count greater than 100,000/mm3

          -  Fibrin split products no greater than 0.001 mg

          -  Fibrinogen greater than 200 mg/dL

          -  Bilirubin no greater than upper limit of normal (ULN)

          -  AST/ALT less than 1.5 times ULN

          -  PT/PTT less than 1.25 times ULN

          -  Creatinine no greater than 1.5 mg/dL

          -  At least 1 year since bypass surgery for atherosclerotic coronary artery disease

          -  No uncompensated coronary artery disease

          -  No history of myocardial infarction or unstable/severe angina in past 6 months

          -  No severe peripheral vascular disease

          -  No history of deep venous or arterial thrombosis in past 3 months

          -  No history of pulmonary embolism in past 3 months

          -  Not pregnant or nursing

          -  Negative pregnancy test

          -  Fertile patients must use effective contraception

          -  No diabetes mellitus

          -  No history of bleeding diathesis

          -  No known active retroviral disease

          -  No AIDS-associated Kaposi's sarcoma

          -  No history of allergic reaction to Cremophor or paclitaxel

          -  No uncontrolled illness or psychiatric disorder that would preclude study

        PRIOR CONCURRENT THERAPY:

          -  No concurrent immunotherapy

          -  At least 3 weeks since prior chemotherapy (6 weeks since mitomycin or nitrosoureas)

          -  No concurrent chemotherapy

          -  At least 3 weeks since prior radiotherapy

          -  No concurrent radiotherapy

          -  Greater than 2 weeks since prior minor surgery (greater than 4 weeks since major
             surgery)

          -  No concurrent antiinflammatory drugs
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.


Eligibility (NLI label): Contradiction