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Type 2 includes a cloverleaf-shaped skull, due to extensive fusion of bones, as well as severe proptosis. This type occurs sporadically (i.e., does not appear to be inherited) and has "a poor prognosis and severe neurological compromise, generally with early death". Type 3 includes craniosynostosis and severe proptosis.
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.
Currently, Noack syndrome (ACPS type I) is now classified as Pfeiffer syndrome (ACS type V); Goodman syndrome (ACPS type IV) is classified as a variation of Carpenter syndrome (ACPS type II); and different researchers have combined Apert (ASC type I), Crouzon (ASC type II), and Pfeiffer (ASC type V) syndrome into Apert-Crouzon and Crouzon ...
747.1 Coarctation of aorta. 747.11 Interruption of aortic arch. 747.2 Other congenital anomalies of aorta. 747.3 Congenital anomalies of pulmonary artery. 747.4 Congenital anomalies of great veins. 747.5 Absence or hypoplasia of umbilical artery. 747.6 Arteriovenous malformation, unspec.
ICD. The World Health Organization's ICD-10 lists avoidant personality disorder as anxious (avoidant) personality disorder . It is characterized by the presence of at least four of the following: persistent and pervasive feelings of tension and apprehension; belief that one is socially inept, personally unappealing, or inferior to others;
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 ...
Persistent Müllerian duct syndrome ( PMDS) is the presence of Müllerian duct derivatives ( fallopian tubes, uterus, and/or the upper part of the vagina) [1] in what would be considered a genetically and otherwise physically normal male animal by typical human based standards. [2] In humans, PMDS typically is due to an autosomal recessive [3 ...
A small spike would be present in the gamma (γ) band in MGUS. Monoclonal gammopathy of undetermined significance ( MGUS) is a plasma cell dyscrasia in which plasma cells or other types of antibody-producing cells secrete a myeloma protein, i.e. an abnormal antibody, into the blood; this abnormal protein is usually found during standard ...
Exophthalmos. Exophthalmos (also called exophthalmus, exophthalmia, proptosis, or exorbitism) is a bulging of the eye anteriorly out of the orbit. Exophthalmos can be either bilateral (as is often seen in Graves' disease) or unilateral (as is often seen in an orbital tumor). Complete or partial dislocation from the orbit is also possible from ...
Usual onset. from birth. Pervasive developmental disorder not otherwise specified ( PDD-NOS) [1] is a historic psychiatric diagnosis first defined in 1980 that has since been incorporated into autism spectrum disorder in the DSM-5 (2013). According to the earlier DSM-IV, PDD-NOS referred to "mild or severe pervasive deficits in the development ...