Microdeletion of chromosome 7P syndrome ocular manifestations.
Several syndromes have been associated with microdeletions of the autosomes. These syndromes are diverse in their morphology and frequently manifest abnormalities of the ocular adnexa. A child with an uncommon microdeletion of the short arm of chromosome 7P presented initially with congenital myogenic ptosis. After multiple systemic abnormalities were found during a routine examination, the child was referred for genetic evaluation where the defects were incidentally found. The child responded well with a fascia lata frontalis sling. The genetic disorder is discussed with an emphasis on the ophthalmologic findings.
Cartwright
M J
MJ
University of Michigan, W. K. Kellogg Eye Center, Ann Arbor, Michigan, USA.
Hassan
T S
TS
Frueh
B R
BR
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000151:congenital / Q000235:genetics* / Q000601:surgery; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7; D000071938:Fasciotomy; D005260:Female; D006337:Heart Murmurs / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009801:Oculomotor Muscles / Q000002:abnormalities* / Q000601:surgery; D013524:Surgical Flaps; D013577:Syndrome