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: Genetics and Pain Severity in Sickle Cell Disease

Eligibility criteria:
-  ELIGIBILITY CRITERIA FOR ALL PARTICIPANTS:

        All study participants must be of self-described African or African American ancestry. They
        will be at least 18 years old and must be able to provide informed, written consent for
        participation.

        INCLUSION CRITERIA:

        Inclusion Criteria for Sickle Cell Patients

          1. Diagnosis of sickle cell disease (documentation of SS, SC, S beta + thalassemia, S
             beta + thalassemia by electrophoresis is required).

          2. If taking chronic analgesics (NSAID, acetaminophen) or opioids, study subjects should
             be on a stable dose for 4 weeks prior to recruitment.

        Inclusion Criteria for Control Subjects

          1. Hemoglobin AA genotype by HPLC or hemoglobin electrophoresis.

          2. General good health defined as the absence of untreated major medical conditions (e.g.
             uncontrolled systemic hypertension, etc.).

        EXCLUSION CRITERIA:

        Exclusion Criteria for Sickle Cell Patients

          1. History of severe vaso-occlusive pain crisis resulting in either evaluation in an
             emergency department or admission to a hospital during the two weeks prior to study
             enrollment.

          2. Acute pain at the time of enrollment defined as spontaneous recent onset pain with a
             self rated score of 6 or higher on a scale of 0-10. (This is acute pain not the pain
             that subjects function at on a daily basis.)

        Exclusion Criteria for Control Subjects

          1. Acute pain or injury at enrollment or a recent history of chronic pain (daily pain
             reported for at least 6 months) in the past 3 years.

          2. Major medical/psychiatric illness known to cause pain.

          3. Sickle cell trait.
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.
Subject must be at most 99 Years

Eligibility (NLI label): Contradiction