Micro syndrome in Muslim Pakistan children.
OBJECTIVE
To date, Micro syndrome has been reported in only three children from one family. We describe an additional 14 children from 11 families.


METHODS
Retrospective case series.


METHODS
Fourteen children from 11 families attending one of five British hospitals.


METHODS
The following features were documented: pre- and postoperative eye findings, electrophysiologic analysis, systemic abnormalities, development, neuroimaging, genealogy, geographic origin of family.


RESULTS
We expand and modify the description of ocular and electrophysiologic findings in Micro syndrome. The eye findings of microphakia, microphthalmos, characteristic lens opacity, and atonic pupils were the presenting feature in all infants and were the most reliable diagnostic signs in the immediate postnatal period. Cortical visual impairment, microcephaly, and developmental delay were not always detectable initially; they developed in all children by 6 months of age. Microgenitalia were a useful diagnostic clue in affected males only. Therefore, eye features were more consistently useful in determining diagnosis than dysmorphology or brain imaging. The families of all the children originate from the Muslim population of Northern Pakistan. Inheritance is likely to be autosomal recessive.


CONCLUSIONS
Micro syndrome usually presents to the ophthalmologist, who may be able to make the diagnosis on the basis of characteristic eye findings combined with ethnic origin. Initially, the nature and severity of nonophthalmic features are not apparent. Early diagnosis of the underlying condition is important to guide management of the cataracts, glaucoma, and developmental delay. It is helpful for the family and medical staff to be aware of the low level of vision that develops despite optimal ophthalmic intervention. Genetic counseling extending into the wider family is particularly important in view of the high rate of consanguinity.
Ainsworth
J R
JR
Eye Department, Birmingham Children's Hospital, Birmingham, West Midlands, England. j.r.ainsworth@bham.ac.uk
Morton
J E
JE
Good
P
P
Woods
C G
CG
George
N D
ND
Shield
J P
JP
Bradbury
J
J
Henderson
M J
MJ
Chhina
J
J
D000293:Adolescent; D002386:Cataract / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003315:Cornea / Q000002:abnormalities*; D004596:Electroretinography; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D007514:Islam; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D008850:Microphthalmos / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D010154:Pakistan / Q000453:epidemiology; D010375:Pedigree; D012189:Retrospective Studies; D013577:Syndrome