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Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.
Their only child, Amiir, was born with Pfeiffer syndrome type 2 on October 16, 1996. He was unable to breathe without a ventilator and died six days after his birth. A week later, the couple were interviewed on The Oprah Winfrey Show, where they pretended their son was still alive.
These conditions are Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, achondroplasia, thanatophoric dysplasia, multiple endocrine neoplasia type 2, and multiple endocrine neoplasia type 2b. The most significant effect concerns achondroplasia (a form of dwarfism ), which might occur in about 1 in 1,875 children fathered by men over 50 ...
Holden is one of 1 in 100,000 children born with a genetic disorder called Pfeiffer syndrome. It is associated with more than 25 mutations on one of two fibroblast growth factor receptor genes.
Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual precocity or gonadotropin-independent testotoxicosis, is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty.
Prince Rogers Nelson (June 7, 1958 – April 21, 2016) was an American singer, multi-instrumentalist, songwriter, record producer, and actor. The recipient of numerous awards and nominations, he is widely regarded as one of the greatest musicians of his generation. [7] He was known for his flamboyant, androgynous persona; [8] [9] his wide vocal ...
Charity: Romeo Milio Lynch Syndrome Foundation) (eliminated after the entrée) Adriana Urbina, Chef and Owner from New York, NY (Chopped Champs Throwdown winner. Charity: Cuatro Por Venezuela) (eliminated after the dessert) Chris Holland, Executive Chef from Sparkill, NY (Alton's Challenge winner.
Infectious mononucleosis ( IM, mono ), also known as glandular fever, is an infection usually caused by the Epstein–Barr virus (EBV). [2] [3] Most people are infected by the virus as children, when the disease produces few or no symptoms. [2] In young adults, the disease often results in fever, sore throat, enlarged lymph nodes in the neck ...
Specialty. Endocrinology. Nelson's syndrome is a disorder that occurs in about one in four patients who have had both adrenal glands removed to treat Cushing's disease. [1] In patients with pre-existing adrenocorticotropic hormone ( ACTH )-secreting pituitary adenomas, loss of adrenal feedback following bilateral adrenalectomy can trigger the ...
Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide. Signs and symptoms. Features of this condition include: Abnormal heart morphology