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Qazi–Markouizos syndrome

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Medical condition
Qazi–Markouizos syndrome
Other namesDysharmonic skeletal maturation-muscular fiber disproportion syndrome

Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual disability, an increased proportion of type 2 muscle fibers, which additionally exhibit increased size, as well as dysharmonic skeletal maturation. To date, the molecular mechanism of Qazi–Markouizos syndrome, which is also known as Puerto Rican infant hypotonia syndrome, remains unknown.

References

  1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Qazi Markouizos syndrome". www.orpha.net. Retrieved 16 March 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. Qazi, QH; Markouizos, D; Rao, C; Sheikh, T; Beller, E; Kula, R (May 1994). "A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion". Journal of Medical Genetics. 31 (5): 405–9. doi:10.1136/jmg.31.5.405. PMC 1049875. PMID 8064821.
  3. Poznanski, AK; Garn, SM; Kuhns, LR; Sandusky, ST (November 1971). "Dysharmonic maturation of the hand in the congenital malformation syndromes" (PDF). American Journal of Physical Anthropology. 35 (3): 417–32. doi:10.1002/ajpa.1330350322. hdl:2027.42/37516. PMID 4332712.
  4. OMIM Entry - 600096 - PUERTO RICAN INFANT HYPOTONIA SYNDROME

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