title: Microdeletion of chromosome 7P syndrome ocular manifestations.
abstract: 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.
authors.affiliation: University of Michigan, W. K. Kellogg Eye Center, Ann Arbor, Michigan, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Cartwright
authors.forename: T S
authors.initials: TS
authors.lastname: Hassan
authors.forename: B R
authors.initials: BR
authors.lastname: Frueh
mesh_terms: 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