Qazi–Markouizos syndrome explained

Qazi–Markouizos syndrome
Synonyms:	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.

Notes and References

1. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Qazi Markouizos syndrome . www.orpha.net . 16 March 2019 . en.
2. Qazi. QH. Markouizos, D . Rao, C . Sheikh, T . Beller, E . Kula, R . A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.. Journal of Medical Genetics. May 1994. 31. 5. 405–9. 8064821. 1049875. 10.1136/jmg.31.5.405.
3. Poznanski. AK. Garn, SM . Kuhns, LR . Sandusky, ST . Dysharmonic maturation of the hand in the congenital malformation syndromes.. American Journal of Physical Anthropology. November 1971. 35. 3. 417–32. 4332712. 10.1002/ajpa.1330350322. 2027.42/37516. free.
4. http://omim.org/entry/600096 OMIM Entry - 600096 - PUERTO RICAN INFANT HYPOTONIA SYNDROME