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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.
Crouzon syndrome: Widely spaced eyes, short-broad head, hearing loss, bulging eyes, beaked nose, low-set ears, strabismus, protruding chin, and short humerus and femur: FGFR2 & FGFR3: Pfeiffer syndrome: Widely spaced eyes, underdeveloped jaw, beaked nose, hearing loss, and bulging eyes: FGFR1 & FGFR2: Apert syndrome
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal ...
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
Boston Children's Hospital (formerly known as Children's Hospital Boston until 2013) [1] is the main pediatric program of Harvard Medical School, Harvard University. [2] It is a nationally ranked, freestanding acute care children's hospital located at the centre of Harvard Longwood Medical and Academic Area in Boston, Massachusetts. [3]
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Pfeiffer syndrome: abnormalities of the skull, hands, and feet; wide-set, bulging eyes, an underdeveloped upper jaw, beaked nose. Saethre–Chotzen syndrome: short or broad head; the eyes may be spaced wide apart and have palpebral ptosis (droopy eyelids), and fingers maybe abnormally short and webbed.
A conductive hearing loss along with middle ear disease is most commonly seen in patients with Pfeiffer syndrome; although, there have been reports of mixed hearing loss as well. The hearing loss is most typically caused by stenosis or atresia of the auditory canal , middle ear hypoplasia and ossicular hypoplasia (Vallino-Napoli, 1996).
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 ...
Jane Wimpfheimer Newburger is an American pediatrician who is Commonwealth Professor of Pediatrics at Harvard Medical School and Associate Cardiologist-in-Chief at the Boston Children's Hospital. Her research has considered the fundamental mechanisms that underpin Kawasaki disease and the outcomes of children suffering from congenital heart ...