Microdeletion of chromosome 7P syndrome ocular manifestations

Ophthalmic Plast Reconstr Surg. 1995 Jun;11(2):139-41. doi: 10.1097/00002341-199506000-00012.


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.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Blepharoptosis / congenital
  • Blepharoptosis / genetics*
  • Blepharoptosis / surgery
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 7*
  • Fasciotomy
  • Female
  • Heart Murmurs / genetics
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Oculomotor Muscles / abnormalities*
  • Oculomotor Muscles / surgery
  • Surgical Flaps
  • Syndrome