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Micro syndrome


Micro Syndrome

General: Autosomal recessive microcephaly and microcornea; Muslim Pakistani inheritance; present at birth; consanguinity; autosomal recessive.

Ocular: Microcornea; congenital cataract; retinal dystrophy; optic nerve atrophy; ptosis; microphakia; microphthalmos; nuclear cataract; atonic pupils.

Clinical: Severe mental retardation; hypothalamic hypogenitalism; hypoplasia of the corpus callosum; short stature; cortical visual impairment; microcephaly; developmental delay.

Ainsworth JR, et al. Micro syndrome in Muslim Pakistan children. Ophthalmology 2001; 108:491-497.

Megarbane A, et al. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia. Severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? J Med Genet 1999; 36:637-640.

Rodriguez C, Rufo M, Gomez de Terreros I. A second family with micro syndrome. Clin Dysmorphol 1999; 8: 241-245.

Warburg M, et al. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: micro syndrome. Am J Dis Child 1993; 147:1309-l312.




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