Qazi–Markouizos syndrome
| Qazi–Markouizos syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 600096 |
| MeSH | C536259 |
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.[1][2] To date, the molecular etiology of Qazi–Markouizos syndrome, which is also known as Puerto Rican infant hypotonia syndrome,[3] remains unknown.
References
- ↑ 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. - ↑ 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.
- ↑ OMIM Entry - 600096 - PUERTO RICAN INFANT HYPOTONIA SYNDROME
External links
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