Category: P

Popliteal pterigium syndrome (PPS) is a heritable, congenital disorder composed of associated oral, extremity, and genital malformations. Skeletal anomalies are occasionally seen with this disorder.  

Polycystic liver disease (PCLD) is a genetic disorder characterized by an overgrowth of biliary epithelium and supportive connective tissue, resulting in the presence of multiple cysts in the liver. The cysts are fluid filled, and the number of cysts present can vary from few to many, depending on the individual. The cysts can range in…

The plantar reflex (PR) is a neurological finding characterized by involuntary contraction of groups of muscles in the foot and lower leg, in response to a mildly noxious stimulus applied to the sole of the foot. The usual noxious stimulus is provided by the examiner’s firmly grasping the patient’s heel and dragging his or her…

Pityriasis rubra pilaris is one of many forms of pityriasis, a group of skin diseases characterized by the presence of fine scales on the skin. It is a chronic, inflammatory condition characterized by eruptions or lesions of the skin that tend to be pointy with the appearance of a horn, are a reddish-brown color, and…

Phencyclidine (PCP) was originally developed as an intra¬ venous surgical anesthetic in the 1950s. It was used routinely in veterinary medicine, but clinical trials with humans were discontinued in 1965 due to a number of adverse side effects, including agitation, delirium, and irrational behavior (National Institute on Drug Abuse, 2001b). It is classified as a…

Pfeiffer syndrome is one of the acrocephalosyndactyly syndromes (Apert syndrome, Apert-Crouzon syndrome, Chotzen syndrome) characterized by craniosynostosis, mild syndactyly of the hands and feet, and newborn dysmorphic facial features.  

Peutz-Jeghers syndrome (PJS) is a rare, heritable condition typified by abnormal pigmentation (freckling) around and inside the mouth and hamartomatous polyps of the gastrointestinal (GI) tract. Hamartomas are benign tumors of embryonic origin and are caused by anomalous development of organ tissues. An inherited disorder characterized by the presence of polyps of the small intestine…

Peters’-plus syndrome, also known as Peter s syndrome, is widely believed to be an autosomal recessively inherited disorder and thus occurs infrequently. Currently there appears to be some consensus that Peters -plus syndrome and Krause-Kivlin Syndrome (or Kivlin syndrome) are the same disorder. Peters’-Plus Syndrome is characterized by a typical face, short limb dwarfism, Peter’s…

Mitochondrial PEPCK deficiency is a disorder of carbohydrate metabolism inherited as an autosomal recessive genetic trait. PEPCK is believed to be related to a deficiency of the enzyme phosphoenolpyruvate carboxykinase, a key enzyme in the conversion of proteins and fat to glucose. This enzyme is essential for the functioning of many organs and systems in…

Pena Shokeir is a primary motor neuropathy associated with the absence of anterior horn cells in the spinal cord and diffuse muscle atrophy. Muscles involved include those of the respiratory system, and underdevelopment of the lungs is evident. There are at least two forms of Pena- Shokeir; however, some researchers have identified five subtypes. Due…