Medicine:Qazi–Markouizos syndrome
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| Qazi–Markouizos syndrome | |
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| Other names | Dysharmonic skeletal maturation-muscular fiber disproportion syndrome[1] |
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 exhibited increased size, as well as dysharmonic skeletal maturation.[2][3] To date, the molecular mechanism of Qazi–Markouizos syndrome, which is also known as Puerto Rican infant hypotonia syndrome,[4] remains unknown.
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Qazi Markouizos syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010.
- ↑ 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. PMID 8064821.
- ↑ Poznanski, AK; Garn, SM; Kuhns, LR; Sandusky, ST (November 1971). "Dysharmonic maturation of the hand in the congenital malformation syndromes.". American Journal of Physical Anthropology 35 (3): 417–32. doi:10.1002/ajpa.1330350322. PMID 4332712. https://deepblue.lib.umich.edu/bitstream/2027.42/37516/1/1330350322_ftp.pdf.
- ↑ OMIM Entry - 600096 - PUERTO RICAN INFANT HYPOTONIA SYNDROME[yes|permanent dead link|dead link}}]
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