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: Use of Nutrigenomic Models for the Personalized Treatment With Medical Foods in Obese People

Eligibility criteria:
Inclusion Criteria:

          -  Adults: between 18 and 70 years old; obesity present as defined by body mass index
             (BMI) ≥30 kg/m2 and by abdominal circumference ≥84 cm (women), and ≥90 cm (men);
             dyslipidemia present as defined by: serum Cholesterol ≥200 mg/dl, HDLc ≤50 mg/dl
             (women) or ≤40 mg/dl (men), serum Triglycerides ≥150 mg/dl, or present treatment for
             dyslipidemia (e.g. statins, fibrates, omega-3 fatty acids, cholestyramine, ezetimibe).

          -  Children: age between 7 and 18 years old; BMI >+2SD WHO reference

        Exclusion Criteria:

          -  Adults: diagnosed for any type of cancer, or medical history of cancer; any
             auto-immune disease; any psychiatric disorder; blood coagulation disorders; history of
             drug abuse; alcohol abuse evaluated using AUDIT-C.

          -  Children: the above exclusion criteria for adults; familial hypercholesterolemia;
             endocrine-induced obesity (Cushing syndrome, hypothyroidism, growth hormone deficit),
             hypothalamus-induced obesity (Babinski-Fröhlich syndrome), genetic syndromes
             (Prader-Willi, achondroplasia, Bardet-Biedl, Fanconi, Turner, etc.); deposition
             diseases (glycogenosis, lipomatosis); personal history for: convulsive disorders,
             nephrotic syndrome, or asthma that necessitated corticoid treatment.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 7 Years old.
Subject must be at most 70 Years

Eligibility (NLI label): Contradiction