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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.
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.
Prince. . . ( m. 1996; div. 2000) . Children. 2 [a] Mayte Jannell Garcia ( / ˈmaɪteɪ /; born November 12, 1973) is an American dancer, actress and former singer. She was married to Prince for four years and has worked with various music artists.
Acrocephalosyndactyly. Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull ( craniosynostosis) and hands and feet ( syndactyly ). [1] Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development.
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.
Here are links to possibly useful sources of information about Pfeiffer syndrome. PubMed provides review articles from the past five years (limit to free review articles) The TRIP database provides clinical publications about evidence-based medicine. Other potential sources include: Centre for Reviews and Dissemination and CDC
Scaphocephaly. Scaphocephaly, or sagittal craniosynostosis, is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. Premature closure results in limited lateral expansion of the skull resulting in a characteristic long, narrow head. [1] The skull base is typically spared.
Brachyturricephaly. Brachyturricephaly is a form of complex craniosynostosis (a combination of brachycephaly and turricephaly) in which the head has both an abnormally high vertical height and a shortened length from anterior to posterior. Malformations of the occipital region are also often present. [1] [2] [3]
Male-limited precocious puberty has an autosomal dominant pattern of inheritance. However, only males are affected; females with the mutant gene are not affected. Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual precocity or gonadotropin-independent testotoxicosis, [1] is a form of gonadotropin ...
Gloria Hemingway (born Gregory Hancock Hemingway, November 12, 1931 – October 1, 2001) was an American physician and writer who was the third and youngest child of author Ernest Hemingway. Although she was born a male and lived most of her life publicly as a man, she struggled with her gender identity from a young age.