These defects include: brain atrophy, agenesis of the corpus callosum, polymicrogyria of the brain, and/or spot calcifications in the brains lateral sulcus; deafness and/or blindness; autonomic nervous system dysfunctions such as anhidrosis, hypohidrosis, and/or episodic spells of hyperventilation interspersed with breath-holding; symptoms of spinal cord malformations; profound or less commonly mild to severe intellectual disability; epileptic seizures; heart and/or anal defects; diaphragmatic hernias; marked muscle weakness; supernumerary nipples; abnormal facial features such as frontal bossing, high frontal hairline, balding around the temple and frontal areas, sparse eyebrows and lashes, hypertelorism, small and flat nose, full cheeks, long philtrum, large mouth with downturned corners, thin cupids bow-shaped upper lip, micrognathia (i.e. undersized jaw), disformed ears that are low-set, thick eyebrows, and/or prominent lips and chin; abnormal oral/dental features such as enlarged tongue, overgrowth of the alveolar ridge and/or gums, delayed teeth eruption, and/or missing or double teeth; patchy skin depigmentations; skeletal anomalies such as limb shortening, lymphedema, increased soft tissues in the extremities, short/broad palms and/or fingers, and/or clinodactyly of the fifth fingers or toes; excessive prenatal and birth weights followed by postnatal declines in growth rates; delayed closure of the anterior fontanel; and/or delayed puberty in males but not females. Causes
PKS is caused by an sSMC that consists of two copies or, less commonly, four copies of the genetic material in the p arm of chromosome 12.
Pellegrini–Stieda syndrome (also called Stieda disease and Köhler–Pellegrini–Stieda disease) refers to the ossification of the superior part of the medial collateral ligament of the knee. It is a common incidental finding on knee radiographs. It is named for the Italian surgeon A. Pellegrini (b. 1877) and the German surgeon A. Stieda (1869–1945). References
Further reading
Altschuler, Eric L.; Bryce, Thomas N. (December 2006). "Images in clinical medicine. Pellegrini-Stieda syndrome". The New England Journal of Medicine. 354 (1): e1. doi:10.1056/NEJMicm040406. PMID 16394294. Wang, JC; Shapiro, MS (1995). "Pellegrini-Stieda syndrome". American Journal of Orthopedics. 24 (6): 493–7. PMID 7670873. External links
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